| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
| Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr... |
OMIM:615592 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... |
OMIM:617388 |
| Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
| Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Conjunctivitis, ... |
OMIM:612692 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... |
OMIM:618986 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, Conjunctivitis, B lymphocytopenia |
OMIM:601457 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Failur... |
OMIM:226990 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Upslanted palpebral fissure, Epicanthus, Iris cyst, Ptosis |
OMIM:620086 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... |
OMIM:607594 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
| Winchester Syndrome |
|
Osteolysis involving tarsal bones, Corneal opacity, Generalized osteoporosis, Carpal osteolysis |
OMIM:277950 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Osteopenia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinoph... |
ORPHA:486 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci... |
OMIM:620282 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... |
OMIM:613953 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L... |
ORPHA:277 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... |
OMIM:300853 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
| Spondylo-Ocular Syndrome |
|
Retinal detachment, Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Osteop... |
ORPHA:85194 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis |
ORPHA:1067 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Intention tremor,... |
OMIM:610539 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato... |
OMIM:158310 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... |
OMIM:106210 |
| Oculoauricular Syndrome |
|
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... |
OMIM:612109 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell co... |
ORPHA:98813 |
| Myopathy, Tubular Aggregate, 1 |
|
Joint contracture, Flexion contracture, Elevated circulating creatine kinase concentration, Abnor... |
OMIM:160565 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conj... |
OMIM:278730 |
| Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Prelingual sensorineural hearing impairment, Sepsis, Re... |
ORPHA:477 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
| Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... |
OMIM:608971 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, H... |
OMIM:607624 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Skin rash, Splenomegaly, Sensorin... |
ORPHA:290 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration ... |
OMIM:243700 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Cataract, Decreased circulating total IgM, Neutropenia, Decreas... |
ORPHA:2643 |
| Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va... |
OMIM:618261 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
ORPHA:101082 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circula... |
OMIM:619644 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, C... |
ORPHA:1473 |
| Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... |
OMIM:619565 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... |
OMIM:608470 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:618944 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... |
ORPHA:443811 |
| Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Albinism, Recurrent viral infections, Leukope... |
OMIM:242840 |
| Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia |
ORPHA:3111 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, ... |
OMIM:618805 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Reduced bone mineral density, Hypotriglyceridemia, Lagophthalmos, Corneal scarring, Increased sus... |
ORPHA:404454 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... |
OMIM:616005 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Epicanthus, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytope... |
OMIM:614069 |
| Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Rod-cone dystrophy, Hearing impairment, Cataract |
OMIM:300719 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Epicanthus, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure, Va... |
OMIM:269920 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
| Immunodeficiency 95 |
|
Recurrent respiratory infections, Decreased circulating IgG3 level, Recurrent viral upper respira... |
OMIM:619773 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis,... |
OMIM:614878 |
| Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Albinism, Periodontitis, Recurrent abscess formation, Neutropenia... |
OMIM:608233 |
| Trichothiodystrophy 3, Photosensitive |
|
Cataract, Hearing impairment, Increased circulating IgA level, Developmental cataract, Recurrent ... |
OMIM:616395 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ... |
OMIM:240500 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular ... |
OMIM:204200 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Developmental c... |
OMIM:616834 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Recurrent viral infections, Protruding ear, Recurrent aspiration pneumonia, Intention... |
ORPHA:221139 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... |
OMIM:618048 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Reti... |
ORPHA:673 |
| Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... |
OMIM:615707 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Atelis Syndrome 1 |
|
Cataract, Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Rec... |
OMIM:620184 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Flexion contracture, Cataract, B lymphocytopenia |
OMIM:619851 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Epiphora, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Decreased circulating t... |
OMIM:619774 |
| Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... |
OMIM:300755 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, ... |
OMIM:175780 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... |
ORPHA:444463 |
| Warburg-Cinotti Syndrome |
|
Hypoplasia of the ear cartilage, Epicanthus, Retinal dystrophy, Symblepharon, Posteriorly rotated... |
OMIM:618175 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
| Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Hypero... |
ORPHA:2969 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Tremor, O... |
OMIM:613179 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... |
OMIM:615767 |
| Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, ... |
ORPHA:485 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Cataract, Joint stiffness, Osteoporosis, Increased bone density w... |
OMIM:136300 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... |
OMIM:606367 |
| Woolly Hair |
|
Hypopigmentation of hair, Cataract, Abnormal retinal morphology, Abnormal pupil morphology, Spars... |
ORPHA:170 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Orbital cyst |
OMIM:251505 |
| Chediak-Higashi Syndrome |
|
Tremor, Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Hypopigmentation of th... |
OMIM:214500 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
| Sialidosis Type 2 |
|
Corneal opacity, Tremor, Splenomegaly, Flexion contracture, Osteoporosis, Abnormal macular morpho... |
ORPHA:87876 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Diarrhea 13 |
|
Recurrent hypoglycemia, Hypoalbuminemia |
OMIM:620357 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... |
OMIM:242150 |
| Nail-Patella Syndrome |
|
Keratoconus, Lester's sign, Cataract, Glomerulonephritis, Sensorineural hearing impairment, Antec... |
OMIM:161200 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Gómez-López-Hernández Syndrome |
|
Telecanthus, Corneal opacity |
ORPHA:1532 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Recurrent respiratory infections, Cataract, Corneal opacity, Splenomeg... |
ORPHA:61 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Hepato... |
OMIM:612541 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Neurotrophic Keratopathy |
|
Anterior uveitis, Diabetes mellitus, Lacrimation abnormality, Corneal scarring, Corneal stromal e... |
ORPHA:137596 |
| 22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Abnormal eyelid morphology, Hypoplasia of the thymus, Hypocalcemia, Chr... |
ORPHA:567 |
| Crigler-Najjar Syndrome Type 1 |
|
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
| Short Syndrome |
|
Telecanthus, Posterior embryotoxon, Corneal opacity, Diabetes mellitus, Abnormal pupil morphology... |
ORPHA:3163 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Cataract, Upslanted palpebral fissure, Microcornea, Microphthalmia |
ORPHA:2528 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
| Hijazi-Reis Syndrome |
|
Astigmatism, Iris coloboma, Hyperbilirubinemia |
OMIM:301094 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy, Epiphora |
OMIM:122100 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis... |
ORPHA:397596 |
| Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Pneumonia, Mixed hearing ... |
ORPHA:309288 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Tremor, Optic atrophy, Hearing impairment |
OMIM:165300 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract |
ORPHA:1381 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia, Splen... |
OMIM:620010 |
| Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... |
OMIM:152950 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Hypoglycemia, Camptodactyly of finger, Osteoporosis, Microcornea, Long eyelashes, Micro... |
ORPHA:48431 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythrode... |
ORPHA:169160 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Fa... |
OMIM:259720 |
| Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Large vessel vasculitis, I... |
OMIM:301000 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent urinary tract infect... |
OMIM:620210 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... |
OMIM:619752 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Cataract, Uplifted earlobe, Recurrent infections, Epiphyseal stippling, Type I diab... |
ORPHA:251009 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:603909 |
| 2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Abnormality iris morphology... |
ORPHA:1617 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Decreased circulating antibody level, Conjunctivitis, Neutropenia,... |
OMIM:616740 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency |
OMIM:615225 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Symblepharon, Trichiasis, Keratitis, Corneal erosion, Keratoconjunctivitis sicca, Conjunctivitis,... |
ORPHA:95455 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... |
OMIM:619126 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Maculopapular exanthema, Skin rash, Retinal pigment epith... |
ORPHA:448237 |
| Epithelial Recurrent Erosion Dystrophy |
|
Corneal erosion, Epiphora |
OMIM:122400 |
| Waardenburg Syndrome Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Hypopigmentation of hair, Lacrimation abnormality, S... |
ORPHA:894 |
| Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Hypermelanotic macule, Minimal change glomerulonephritis, ... |
ORPHA:1830 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Epicanthus, Synophrys, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Thick ey... |
ORPHA:3268 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Limitation of movement at ankles, Decreased distal sen... |
ORPHA:206594 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Corneal opacity, Reduced bone mineral density |
ORPHA:577 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,... |
OMIM:616050 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
| Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Abnormality of skin pigmentation |
OMIM:237450 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Reduced bone mineral density |
ORPHA:2370 |
| Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... |
OMIM:308240 |
| Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Tremor, Large clumps of pigment irregularly distributed alon... |
ORPHA:167 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Craniosynostosis, Recurr... |
OMIM:147060 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Iris hypopigmentation, Hypoglycemia, Cardiomyopathy, Thrombocytopenia, Hearing impairment |
ORPHA:67048 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Microphthalmia, Syndromic 13 |
|
Anteverted ears, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis |
OMIM:300915 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Lacrimation abnormality, Chorioretinal degeneration... |
ORPHA:98973 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Long eyelashes, Neonatal hyperbilirubinemia |
ORPHA:3363 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Glucose intol... |
OMIM:208900 |
| Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Tachycardia, Corneal opacity, Recurrent fractures, Abnorma... |
ORPHA:1764 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... |
OMIM:616171 |
| Hurler-Scheie Syndrome |
|
Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Limitation of joint mobility, Ca... |
ORPHA:93476 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis |
ORPHA:88643 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... |
OMIM:615468 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Cataract, Microcornea, Iris transillumination defect, Osteopetros... |
OMIM:617306 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive... |
OMIM:615559 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Hypoalbuminemia, Myocardial infarction |
ORPHA:54370 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill... |
ORPHA:79124 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Epicanthus, Telecanthus, Pectus excavatum, Thrombocytopenia, Synophrys, Flexion contracture, Sple... |
OMIM:617303 |
| Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole... |
OMIM:208920 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Aplasia of the thymus, Cupped ear, T lymphocytopenia, Ectopia pupillae, Contracture o... |
OMIM:618223 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated e... |
OMIM:617475 |
| X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... |
ORPHA:54 |
| Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Joint stiffness, Sensorin... |
ORPHA:1466 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Retinal detachment, Joint laxity, Corneal opacity, Osteoporosis, Abnormal vitreous hu... |
ORPHA:2788 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Salmonella osteomyelitis, Hypoalbuminemia, Thromb... |
OMIM:209950 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Corneal pterygium, Symblepharon |
OMIM:245660 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Telecanthus, Corneal opacity, Optic nerve hypoplasia, Craniosynostosis, Posteriorly rotated ears,... |
OMIM:301056 |
| Corneal Dystrophy, Meesmann, 2 |
|
Epiphora, Recurrent corneal erosions |
OMIM:618767 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L... |
OMIM:310600 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Hypopigmentation of the s... |
OMIM:610798 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Leukopenia, Erythroid hyp... |
ORPHA:79277 |
| Erythrokeratodermia Variabilis |
|
Cataract, Skin rash, Corneal opacity, Hypermelanotic macule, Diabetes mellitus, Protruding ear, I... |
ORPHA:317 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ectropion, Corneal opacity, Cataract, Sensorineural hearing impairment,... |
ORPHA:2719 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... |
OMIM:237800 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Dacryocystitis, Increased bone mineral density, Lacrimation abnormality, Osteopoikilosis |
ORPHA:1562 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Reticul... |
ORPHA:14 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Hypoalbuminemia, Lymphopenia, Hyperpigmentation of the skin, ... |
OMIM:617575 |
| Immunodeficiency 23 |
|
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... |
OMIM:615816 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Dec... |
OMIM:102700 |
| Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Generalized bone demineralization, Opacification of the corneal ... |
OMIM:215250 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Downslanted palpeb... |
OMIM:602562 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Increased bone mineral density, Cataract, Ventricular arrhythmia, Abnormal... |
ORPHA:36913 |
| Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Otodental Syndrome |
|
High-frequency sensorineural hearing impairment, Cataract, Lens coloboma, Microcornea, Retinal co... |
ORPHA:2791 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c... |
OMIM:613011 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Mucolipidosis Iv |
|
Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Dystonia, Retinal degeneration |
OMIM:252650 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... |
OMIM:301078 |
| Duane Retraction Syndrome |
|
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Chorioretin... |
ORPHA:233 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Warburg Micro Syndrome 1 |
|
Optic atrophy, Osteoporosis, Developmental cataract, Microcornea, Low-set ears, Microphthalmia, M... |
OMIM:600118 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... |
OMIM:602450 |
| Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Epicanthus, Pancytopenia, Leukemia, Decreased CD4:CD8 ratio |
OMIM:614038 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Hyphema, Leuk... |
OMIM:221900 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Epicanthus, Increased bone mineral density, Cataract, Delayed patellar ossification, Thoracic kyp... |
ORPHA:163649 |
| Sialidosis Type 1 |
|
Cataract, Corneal opacity, Tremor, Splenomegaly, Decreased nerve conduction velocity, Sensorineur... |
ORPHA:812 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Corneal opacity, Hypertension, Osteolysis involving tarsal bones, Metatarsal osteolys... |
OMIM:166300 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent infections, Hypoplasia of the iris, Recurrent bacterial in... |
OMIM:612783 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in... |
ORPHA:169090 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
| Graft Versus Host Disease |
|
Myositis, Fasciitis, Limited elbow movement, Gastrointestinal inflammation, Stiff interphalangeal... |
ORPHA:39812 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Sensorineural hearing impairment, Acute lymphoblastic leukemia, Recurrent bacterial infections, N... |
OMIM:610738 |
| Harel-Yoon Syndrome |
|
Corneal opacity, Optic atrophy, Developmental cataract, Upslanted palpebral fissure, Dystonia, Hy... |
OMIM:617183 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia |
OMIM:179700 |
| Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
| Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Joint stiffness, Splenomegaly, Se... |
ORPHA:585 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Hearing impairment |
OMIM:120433 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... |
OMIM:618815 |
| Hemochromatosis, Type 4 |
|
Cataract, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentra... |
OMIM:606069 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact... |
OMIM:613496 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Joint hypermobility |
OMIM:619013 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Skin rash, Abnormal auditory evoked potentials, Astigmatism, Long eyelashes, D... |
OMIM:617523 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Opportunistic bacterial infection, Neutropenia, Abnormal cytokine signaling, Severe cytomegalovir... |
ORPHA:158048 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Multiple cafe-au-lait spots, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Squalene Synthase Deficiency |
|
Epicanthus, Increased circulating farnesol concentration, Elbow flexion contracture, Decreased LD... |
OMIM:618156 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... |
ORPHA:507 |
| Blepharonasofacial Malformation Syndrome |
|
Epicanthus, Telecanthus, Lacrimation abnormality, Abnormal eyelash morphology, Torsion dystonia, ... |
ORPHA:1252 |
| Galloway-Mowat Syndrome 6 |
|
Epicanthus, Hypoalbuminemia |
OMIM:618347 |
| Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Splenomegal... |
ORPHA:381 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis... |
ORPHA:1794 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Ocular albinism, Thrombocytopenia |
OMIM:614171 |
| Microphthalmia, Syndromic 16 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morphology, Clavicular sclero... |
ORPHA:2790 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
| Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Dystonia, Hypoplasia of the iris, Hypoalbuminemia, Opacification of the cor... |
OMIM:251300 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti... |
OMIM:120100 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Telecanthus, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to ... |
OMIM:619151 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Cataract, Craniosyno... |
OMIM:620005 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna... |
ORPHA:529808 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Epicanthus, Sparse lower eyelashes, Lacrimation abnormality, Highly arched eyebrow, Hypopigmented... |
ORPHA:1807 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna... |
ORPHA:529799 |
| Fibronectin Glomerulopathy |
|
Hypertension, Hypoalbuminemia, Cerebral hemorrhage |
ORPHA:84090 |
| Weill-Marchesani Syndrome 3 |
|
Joint stiffness, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, ... |
OMIM:614819 |
| Pierpont Syndrome |
|
Joint laxity, Telecanthus, Posteriorly rotated ears, Uplifted earlobe, Microcornea, Narrow palpeb... |
ORPHA:487825 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Dystonia, Pulmonary arterial hypertension, Incre... |
OMIM:616299 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Microphthalmia, Cataract |
OMIM:278780 |
| Lathosterolosis |
|
Epicanthus, Cataract, Elevated circulating lathosterol concentration, Increased mean platelet vol... |
OMIM:607330 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Transient ischemic attack, Hypermelanotic macule, Abnormal immunoglobul... |
OMIM:242900 |
| Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium |
OMIM:619339 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Pectus carinatum, Leukopenia, Conjunctivitis, Thoracic kyphosis, Hypoalbumin... |
ORPHA:505248 |
| Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:91547 |
| Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Abnormal rib morphology, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis, Increased bone mineral density |
OMIM:615198 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Cataract, Tricuspid regurgitation, Eczema, Thrombocytopenia, Conges... |
ORPHA:508542 |
| Woolly Hair Nevus |
|
Patchy hypopigmentation of hair, Heterochromia iridis, Enlarged vestibular aqueduct, Persistent p... |
ORPHA:79414 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Cataract, Multiple joint contractures, Supraventricular arrhythmia, Band keratopathy,... |
ORPHA:2959 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Knee flexion contracture, Upslanted palpebral fissure, Astigmatism, Camptodactyly, Long... |
OMIM:619694 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... |
OMIM:618282 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... |
ORPHA:183675 |
| Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ... |
OMIM:277900 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia |
OMIM:144300 |
| Pierson Syndrome |
|
Hypoproteinemia, Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular s... |
OMIM:609049 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Skin rash, Posteriorly rotated ears, ... |
OMIM:610377 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Epicanthus, Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM le... |
OMIM:242860 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
| Alg1-Cdg |
|
Cardiomyopathy, Limitation of joint mobility, Hypoalbuminemia |
ORPHA:79327 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Craniosynostosis, Limited elbow movement, Decreased proportion o... |
ORPHA:508533 |
| Revesz Syndrome |
|
Aplastic anemia, Leukocoria, Fine, reticulate skin pigmentation, Exudative retinopathy, Bone marr... |
OMIM:268130 |
| Cat-Eye Syndrome |
|
Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Hearing im... |
ORPHA:195 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Incontinentia Pigmenti |
|
Uveitis, Abnormality of skin pigmentation, Infectious encephalitis, Abnormal chorioretinal morpho... |
ORPHA:464 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration |
OMIM:613153 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Recurrent infections,... |
ORPHA:1667 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst... |
OMIM:616267 |
| Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
| Reticular Dysgenesis |
|
Anemia, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:33355 |
| Alexander Disease |
|
Microcoria |
OMIM:203450 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentia... |
OMIM:619260 |
| Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
| Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
| Tularemia |
|
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Leukocytosis, Ane... |
ORPHA:3392 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... |
OMIM:618495 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Tricuspid regurgitation, Brushfield spots, Hepatosplenomegaly, Ath... |
OMIM:614866 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... |
OMIM:616100 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... |
OMIM:615122 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cataract, Anophthalmia, Hypermelanotic macule, Foot joint co... |
ORPHA:90321 |
| Complement Component 7 Deficiency |
|
Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men... |
OMIM:610102 |
| Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
| Dubowitz Syndrome |
|
Aplastic anemia, Protruding ear, Hypoplasia of the iris, Otitis media, Hypocholesterolemia, Megal... |
OMIM:223370 |
| Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Inflamm... |
ORPHA:39044 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Ptosis |
ORPHA:3152 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Chorioretinal dysplasia, Hypoammonemia, Abnormal pupil morphology, Protruding ear, Lentiglobus, P... |
ORPHA:534 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Pierpont Syndrome |
|
Telecanthus, Posteriorly rotated ears, Microcornea, Narrow palpebral fissure, Large fleshy ears, ... |
OMIM:602342 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Splenomegaly, Recurrent infectio... |
ORPHA:64743 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Epicanthus, Sinusitis, Dysgammaglobulin... |
OMIM:251260 |
| Hydroa Vacciniforme |
|
Keratitis, Telangiectasia of the skin, Epiphora |
ORPHA:330058 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, Leukocytosis, S... |
OMIM:612840 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R... |
OMIM:617780 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Sneddon Syndrome |
|
Facial palsy, Cerebral hemorrhage, Tremor, Decreased circulating total IgM, Hypertension, Ischemi... |
OMIM:182410 |
| Cystic Echinococcosis |
|
Invasive parasitic infection, Eosinophilia, Abscess, Unusual infection, Bone cyst, Membranous nep... |
ORPHA:400 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Telecanthus, Rieger anomaly, Abnormal auditory evoked potentials, Sensorineural hearing impairmen... |
OMIM:109120 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Pancytopenia, Hypertriglyceridemia, Skin rash, Reduced natural kil... |
OMIM:603553 |
| Bloom Syndrome |
|
Recurrent herpes, Severe varicella zoster infection, Uveitis, Otitis media, Decreased circulating... |
ORPHA:125 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Osteoarthritis, Fasting hyperinsulinemia, Insulin ... |
ORPHA:2298 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Telecanthus, Epicanthus, Sparse eyelashes, Cataract, Microcornea, Large earlobe, Low-set ears, Pe... |
OMIM:257850 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Acute leukemia |
ORPHA:281090 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Telecanthus, Corneal opacity, Craniosynostosis, Developmental glaucoma, Aniridia |
ORPHA:1064 |
| Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse eyelashes, Hypoglycemia, Hyperbilirubinemia, Blepharophimosis, Downslanted... |
OMIM:619075 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Telecanthus, Symblepharon, Thick eyebrow |
ORPHA:488434 |
| Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Increased serum beta-hexosaminidase, Joint stiffness, Pectus carinatum, Abn... |
OMIM:252605 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Corneal opacity, Cupped ribs, Ectopia pupillae, Lens subluxa... |
ORPHA:85167 |
| Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Hypertrophic cardiomyopathy, Developmental cataract, Hypocholesterolemia |
OMIM:618810 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Eczema, Microcytic anemia, Optic atrophy, Abnormality of skin pigmentation, Low-set ear... |
OMIM:612379 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Hearing impair... |
OMIM:610023 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... |
OMIM:617638 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
| Unilateral Ocular Duplication |
|
Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Blepharophimosis, Iris coloboma |
ORPHA:3374 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Portal hypertension, Hypersplenism, Conjunctival icterus, Leukocytosi... |
ORPHA:480520 |
| Temtamy Syndrome |
|
Telecanthus, Joint hyperflexibility, Low-set ears, Chorioretinal coloboma, Microphthalmia, Iris c... |
ORPHA:1777 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... |
ORPHA:33110 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Splenomegaly, Meningitis, Sensorineural hearing impairment, Uveitis, Sma... |
ORPHA:36412 |
| Osteopoikilosis And Dacryocystitis |
|
Dacryocystitis, Osteopoikilosis |
OMIM:166705 |
| Hyperostosis Corticalis Generalisata |
|
Abnormal clavicle morphology, Abnormal cortical bone morphology, Cranial hyperostosis, Generalize... |
ORPHA:3416 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... |
OMIM:617021 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
| Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Telecanthus, Symblepharon |
OMIM:611929 |
| Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia, Retinal fold |
OMIM:613517 |
| Lacrimoauriculodentodigital Syndrome |
|
Conductive hearing impairment, Increased corneal thickness, Hypoplasia of the lacrimal punctum, A... |
ORPHA:2363 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recu... |
OMIM:300635 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Low-se... |
OMIM:615145 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Increased total bilirubin |
ORPHA:2924 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
| Cln3 Disease |
|
Cataract, Acne, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinop... |
ORPHA:228346 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Sensorineural hearing impairment, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomat... |
OMIM:615966 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hematochezia, ... |
ORPHA:2070 |
| Immunodeficiency 22 |
|
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... |
OMIM:615758 |
| Trisomy 9P |
|
Abnormal pupil morphology, Macrotia, Downslanted palpebral fissures, Protruding ear |
ORPHA:236 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le... |
ORPHA:247353 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... |
OMIM:616108 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity, Abnormality of bone mineral density |
ORPHA:2741 |
| 8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Iris hypopigmentation, Corneal opacity, Sclerocornea, Eczema, Hearing impai... |
ORPHA:284160 |
| Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy... |
ORPHA:2119 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Decreased circulating complement C3 concentration, Lymphocytosis, Hearing imp... |
ORPHA:79087 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Insulin resistance, Osteoporosis, Congenital bilateral ptosis, Cafe-au-lait spot, N... |
ORPHA:73272 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
| Cinca Syndrome |
|
Papilledema, Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leuk... |
OMIM:607115 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Myocarditis, Hyperammonemia, Leuk... |
ORPHA:292 |
| Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis, Decreased circulating complement C8 concentration |
OMIM:613789 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Flexion cont... |
OMIM:613155 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Lacrimation abnormality, Syno... |
ORPHA:3440 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Increased proportion of exhausted T cells |
OMIM:618307 |
| Walker-Warburg Syndrome |
|
Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Anopht... |
ORPHA:899 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Cataract, Heart block, Splenomegaly, Sensorineural hearing i... |
ORPHA:773 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Anophthalmia, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, ... |
OMIM:615877 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent ear infections... |
ORPHA:163956 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections, Partial functional complement factor D deficiency |
OMIM:613912 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Fish-Eye Disease |
|
Splenomegaly, Corneal opacity, Angina pectoris |
ORPHA:79292 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Pericarditis, Almond-shaped palpebral fissure, Tremor, Flexion contracture, Cardiomyo... |
OMIM:212065 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Upslanted palpebral fis... |
OMIM:617237 |
| Distal Deletion 6P |
|
Epicanthus, Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of... |
ORPHA:96125 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomega... |
ORPHA:93400 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia, Unilateral narrow palpebr... |
OMIM:618727 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Joint laxity, Epicanthus, Cataract, Sensorineural hearing impairment, Hypsarrhythmia, Upslanted p... |
OMIM:607906 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li... |
ORPHA:1791 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Epicanthus, Cataract, Abnormal antihelix morphology, Chorioretinal coloboma, Hypoplasia of the an... |
ORPHA:2489 |
| Sponastrime Dysplasia |
|
Joint laxity, Epicanthus, Cataract, Delayed epiphyseal ossification, Recurrent pneumonia, General... |
ORPHA:93357 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Norrie Disease |
|
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Aplasia/Hypoplas... |
ORPHA:649 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... |
ORPHA:247585 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
| Trichinellosis |
|
Skin rash, Facial palsy, Increased circulating IgE level, Retinal hemorrhage, Central retinal art... |
ORPHA:863 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Maternally-Inherited Diabetes And Deafness |
|
Cataract, Abnormal chorioretinal morphology, Congestive heart failure, Sensorineural hearing impa... |
ORPHA:225 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Hy... |
OMIM:557000 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormal eyelid morphology, Abnorma... |
ORPHA:193 |
| Paroxysmal Hemicrania |
|
Stiff neck, Palpebral edema, Diabetes mellitus, Hypertension, Conjunctival hyperemia, Epiphora, P... |
ORPHA:157835 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Corneal erosion, Flexion contracture, Dilated cardiomyopathy, Anemia, Decre... |
ORPHA:89842 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Portal hypertension, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity,... |
OMIM:616278 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Zellweger Syndrome |
|
Epicanthus, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Exter... |
ORPHA:912 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis |
OMIM:602400 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Diabetes mellitus, Megaloblastic anemia, Tremor, Sensorineural he... |
OMIM:222300 |
| Alagille Syndrome |
|
Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Abnormal pupil morphology, Abnormal r... |
ORPHA:52 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia |
OMIM:616730 |
| Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
ORPHA:411777 |
| Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... |
OMIM:270200 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hypoalbuminemia, Portal hypertension, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cataract, Sensorineural hearing impairment, Recurrent pneumonia, Osteoporosis, Flexion contractur... |
OMIM:214150 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Epicanthus, Large earlobe, Microphthalmia, Leukemia, Downslanted palpebral fissures |
OMIM:602501 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia |
OMIM:607765 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Camptodactyly, Thrombocyt... |
OMIM:608104 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Tremor,... |
ORPHA:713 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Rec... |
ORPHA:293978 |
| Keratosis Pilaris Atrophicans |
|
Absent eyelashes, Epiphora, Sparse eyebrow |
OMIM:604093 |
| Potocki-Lupski Syndrome |
|
Downslanted palpebral fissures, Hypocholesterolemia |
OMIM:610883 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Generalized dystonia, Corneal opacity, Camptodactyly of finger,... |
ORPHA:354 |
| Neuraminidase Deficiency |
|
Cataract, Bone-marrow foam cells, Splenomegaly, Sensorineural hearing impairment, Vacuolated lymp... |
OMIM:256550 |
| Kaufman Oculocerebrofacial Syndrome |
|
Epicanthus, Telecanthus, Sparse eyebrow, Bell-shaped thorax, Upslanted palpebral fissure, Microco... |
OMIM:244450 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Upslanted palpebral fissure, Hy... |
ORPHA:496790 |
| Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Epicanthus, Telecanthus, Band keratopathy, Phthisis bulbi,... |
OMIM:267750 |
| Trichothiodystrophy |
|
Osteopenia, Congenital exfoliative erythroderma, Multiple joint contractures, Protruding ear, Mic... |
ORPHA:33364 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
| Melorheostosis With Osteopoikilosis |
|
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Kindler Syndrome |
|
Corneal erosion, Symblepharon |
OMIM:173650 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating C-reactive protein co... |
OMIM:615934 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Immunodeficiency 40 |
|
Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia... |
OMIM:616433 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
| Farber Disease |
|
Corneal opacity, Recurrent upper respiratory tract infections, Osteoporosis, Flexion contracture,... |
ORPHA:333 |
| Hurler Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Corneal opacity, Joint stiffness, Splenom... |
OMIM:607014 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
| Muckle-Wells Syndrome |
|
Leukocytosis, Conjunctivitis, Conjunctival hyperemia |
OMIM:191900 |
| Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Osteoarthritis, Abnorm... |
ORPHA:355 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract |
ORPHA:324416 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Elevated circulating creatine kinase concentration, Peters anomaly, Buphthalmos, Congen... |
OMIM:613150 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Corneal arcus, Normochromic anemia |
OMIM:245900 |
| Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen |
ORPHA:543 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
| Renpenning Syndrome |
|
Epicanthus, Cataract, Diabetes mellitus, Joint stiffness, Pectus excavatum, Abnormal rib morpholo... |
ORPHA:3242 |
| Mevalonic Aciduria |
|
Low-set, posteriorly rotated ears, Splenomegaly, Cataract, Downslanted palpebral fissures |
ORPHA:29 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... |
ORPHA:567548 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Cataract, Diaphyseal sclerosis... |
ORPHA:94089 |
| Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity, Joint stiffness, Splenomegaly, Sensorineural hearing impai... |
ORPHA:93474 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Cinca Syndrome |
|
Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:1451 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Cortical thickening of long bone diaphyses, Otitis media, Joint laxity, Highly arched... |
ORPHA:309282 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
| Peroxisome Biogenesis Disorder 3B |
|
Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| 1Q41Q42 Microdeletion Syndrome |
|
Upslanted palpebral fissure, Hyposegmentation of neutrophil nuclei, Abnormality iris morphology |
ORPHA:250999 |
| Abcd Syndrome |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal auditory evoked potentials, Albin... |
OMIM:600501 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Fused cervical vertebrae, Astigmatism, Bone marrow hypocellularity, Neutr... |
OMIM:609053 |
| Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Portal hypertension, Chorioretinal atrophy, Osteoporosis, Hepatos... |
OMIM:619487 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Epicanthus, Cataract, Retinal pigment epithelial mottling, Dystonia, Micr... |
OMIM:614105 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne... |
OMIM:618892 |
| Tangier Disease |
|
Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia,... |
ORPHA:31150 |
| Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of... |
ORPHA:141083 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypoglycemia, Radial club hand, Hyperkalemia, S... |
OMIM:617053 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:66628 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytop... |
ORPHA:391487 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Hyperpigmentation of the skin, Craniosynostosis, Recurrent skin infections, Seps... |
ORPHA:79396 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
| Bartsocas-Papas Syndrome |
|
Corneal opacity, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Sparse or absent eyelashe... |
ORPHA:1234 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Cataract, Hypoglycemia, Elevated circulating creatine kinase concentrati... |
OMIM:608836 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Splenomegaly... |
ORPHA:2137 |
| Sengers Syndrome |
|
Osteopenia, Cataract, Cardiac arrest, Sudden cardiac death, Developmental cataract, Pulmonary art... |
OMIM:212350 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreas... |
OMIM:603585 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... |
ORPHA:51636 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Dystonia, Neonatal hypoglycemia, Tremor, Congestive heart failure, Recurrent pneumonia,... |
OMIM:616271 |
| Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration, Anemia |
OMIM:613550 |
| Isolated Ectopia Lentis |
|
Cataract, Joint stiffness, Ectopia lentis, Hypertension, Ectopia pupillae |
ORPHA:1885 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Cataract, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Hepatosplenomegaly, Recurr... |
ORPHA:168577 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Anemia, Microphthalmia, Thrombocytopenia, Hearing impairment |
ORPHA:858 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Cataract, Hyperpigmentation of the skin, Telangiectasia, In... |
ORPHA:454831 |
| Roifman Syndrome |
|
Eosinophilia, Prominent eyelashes, Decreased circulating antibody level, Hepatosplenomegaly, Long... |
ORPHA:353298 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Abnormal pinna morphology, Sparse eyeb... |
ORPHA:35173 |
| Temtamy Syndrome |
|
Aortic regurgitation, Highly arched eyebrow, Lens luxation, Ectopia lentis, Lop ear, Chorioretina... |
OMIM:218340 |
| Metatropic Dysplasia |
|
Cataract, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Abnormal ri... |
ORPHA:2635 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Arthritis, Anemia |
ORPHA:37748 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Torticollis, Cataract, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Congenital s... |
ORPHA:45358 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
| Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigme... |
OMIM:204000 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:179494 |
| Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Hearing impairment, Optic atrophy, Astigmatism, Ch... |
ORPHA:494344 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
| Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome... |
OMIM:251880 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Brushfield spots, Optic nerve dysplasia, Upslanted palpebr... |
OMIM:214110 |
| Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
| Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Low-set ears, Cherry red spot of th... |
ORPHA:93399 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
ORPHA:540 |
| Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Opacification of the corneal stroma |
OMIM:271630 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... |
OMIM:619381 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Micr... |
ORPHA:1806 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Conjunc... |
ORPHA:99826 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Abnormal pupil morphology, Aganglionic megacolon, Arrhythmia |
ORPHA:2151 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short ribs, Corneal opacity, Narrow chest, Coarse metaphyseal trabecularization |
OMIM:618961 |
| Immunodeficiency 54 |
|
Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Reduced natural kille... |
OMIM:609981 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, M... |
ORPHA:36234 |
| Werner Syndrome |
|
Abnormality of retinal pigmentation, Increased bone mineral density, Cataract, Telangiectasia of ... |
ORPHA:902 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Cataract, Abnormal rib morphology, Narrow chest, Microphthalmia, De... |
ORPHA:93267 |
| Lipoma Of The Conjunctiva |
|
Conjunctival lipoma |
OMIM:151700 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Retinal dystrophy, Anophthalmia, Sclerocornea, Sensorineural hearing impairment, Microc... |
ORPHA:139471 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Nuclear ca... |
OMIM:608885 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Cataract |
ORPHA:79238 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral... |
ORPHA:811 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Corneal opacity, Increased susceptibility to fractures, Athetosis, Abnormal cornea morphology, Dy... |
ORPHA:357058 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... |
OMIM:267760 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Chorioretinal hyperpigmentation, Hypoalbuminemia, Hyperalaninemia, Hypertrophic car... |
OMIM:618329 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
| Mannosidosis, Alpha B, Lysosomal |
|
Epicanthus, Splenomegaly, Macrotia, Vacuolated lymphocytes, Sensorineural hearing impairment, Dec... |
OMIM:248500 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, ... |
OMIM:617093 |
| Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal circulating phytanic acid concentration, Type II diabetes mellitus, Mydriasis |
ORPHA:247815 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
| Alg12-Cdg |
|
Hyponatremia, Epicanthus, Abnormal bone ossification, Recurrent hypoglycemia, Hypoalbuminemia, B ... |
ORPHA:79324 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Lacrimation abnormality, Bradycardia |
OMIM:167400 |
| Hurler Syndrome |
|
Recurrent respiratory infections, Corneal opacity, Camptodactyly of finger, Angina pectoris, Sple... |
ORPHA:93473 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Lymphocytosis, Short eye... |
OMIM:258360 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ... |
OMIM:259700 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
| Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, Hearing impairment, Sensorin... |
ORPHA:2712 |
| Lissencephaly 8 |
|
Microphthalmia, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:617255 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Microphthalmia, Syndromic 8 |
|
Blepharophimosis, Microcornea, Microphthalmia, Short palpebral fissure |
OMIM:601349 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
| X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level, Cataract, Recurrent respiratory infections |
ORPHA:2571 |
| Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
| Frontonasal Dysplasia 1 |
|
Epicanthus, Cataract, Low-set ears, Camptodactyly, Conductive hearing impairment, Microphthalmia,... |
OMIM:136760 |
| Galloway-Mowat Syndrome 3 |
|
Epicanthus, Pectus excavatum, Hypertension, Hypoalbuminemia, Camptodactyly, Microphthalmia, Downs... |
OMIM:617729 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... |
OMIM:232800 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Iridodonesis, Epicanthus, Hypoplasia of the iris, Joint hyperflexibility, Astigmatism... |
ORPHA:2479 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... |
ORPHA:86816 |
| Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Galactokinase Deficiency |
|
Cataract, Hypoglycemia, Sensorineural hearing impairment, Hyperinsulinemia, Hepatosplenomegaly, I... |
ORPHA:79237 |
| Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Bradycardia, Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Pectus carinatum, Microcornea, Wrist flexion ... |
ORPHA:800 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Epicanthus, Telecanthus, Abnormal eyelash morphology, Flexion c... |
OMIM:147791 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Recurrent infection... |
OMIM:617519 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Maculopapular exanthema, Eosinophilia, Ret... |
OMIM:308300 |
| Retinoblastoma |
|
Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema,... |
ORPHA:790 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Abnormal eyelid morphology, Protruding ear, Abnormal optic... |
ORPHA:2526 |
| Wilson Disease |
|
Splenomegaly, Hepatitis, Anemia, Kayser-Fleischer ring, Arthritis, Acute hepatitis, Pathologic fr... |
ORPHA:905 |
| Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Dystonia |
OMIM:304700 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Flexion contracture, Hepat... |
ORPHA:367 |
| Mucopolysaccharidosis Type 3 |
|
Synophrys, Flexion contracture, Atrioventricular block, Reduced bone mineral density, Otitis medi... |
ORPHA:581 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Decreased circulating copper concen... |
OMIM:300972 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Abnormality of neutrophils, Hearing impairment, White hair, Ocular albinism, Reduced bo... |
ORPHA:2720 |
| Cowden Syndrome 1 |
|
Cataract, Hearing impairment, Thyroiditis, Angioid streaks of the fundus, Decreased circulating a... |
OMIM:158350 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Hyper... |
ORPHA:79303 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Tremor, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Incre... |
OMIM:614307 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Hurler-Scheie Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Corneal opacity, Camptodactyly of finger,... |
OMIM:607015 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, Thrombocytosis... |
OMIM:226300 |
| Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Splenomegaly, Flexion contracture, Recurren... |
OMIM:617591 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse eyebrow, Lacrimation abnormality, Melanocytic nevus |
ORPHA:1882 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Arthrogryposis multiplex congenita, Limitation of joint mobility, Lacrimation abnormality |
ORPHA:1484 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Epicanthus, Increased bone mineral density, Cataract, Asymmetry of the thorax, Aortic valve steno... |
ORPHA:2780 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Thickened heli... |
ORPHA:2714 |
| Noonan Syndrome 12 |
|
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia |
OMIM:618624 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas... |
OMIM:619375 |
| Sandestig-Stefanova Syndrome |
|
Epicanthus, Laterally extended eyebrow, Highly arched eyebrow, Developmental cataract, EEG abnorm... |
OMIM:618804 |
| Primary Intestinal Lymphangiectasia |
|
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... |
ORPHA:90362 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... |
OMIM:615181 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Redu... |
ORPHA:324 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Hyperpigmentation of the skin, Ani... |
OMIM:231550 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, Conjunctival icterus, Optic atrophy, Hyperbilirubinemia, Polycythemia |
OMIM:606812 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Synophrys, Lens coloboma, Microcornea, Iris coloboma, Ho... |
OMIM:619539 |
| Atelis Syndrome 2 |
|
Epicanthus, Remnants of the hyaloid vascular system, Hyperinsulinemia, Developmental cataract, An... |
OMIM:620185 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Caroli Disease |
|
Liver abscess, Cholangitis, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Leu... |
ORPHA:53035 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
| Cystinosis |
|
Corneal opacity, Portal hypertension, Rickets, Hypokalemia, Hypophosphatemia, Type I diabetes mel... |
ORPHA:213 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Oroma... |
OMIM:128100 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth... |
ORPHA:822 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Reduced bone mineral density, Retinal dysplasia, Neutropenia, Astigmatism, Hypom... |
OMIM:617052 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Cataract, Portal hypertension, Leukopenia, EEG abnormality, Pulmonar... |
ORPHA:974 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Recurrent respiratory infecti... |
OMIM:618278 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
| Srd5A3-Cdg |
|
Cataract, Optic disc hypoplasia, Microcytic anemia, Optic atrophy, Spotty hyperpigmentation, Rod-... |
ORPHA:324737 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Fair hair, Thrombocytopenia, Sensorineural hearing impairmen... |
ORPHA:79330 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Epicanthus, Abnormal cortical bone morp... |
OMIM:614886 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Gastrointestinal hemorrhage |
ORPHA:2494 |
| Linear Verrucous Nevus Syndrome |
|
Cataract, Reduced bone mineral density, Abnormal cornea morphology, Hypophosphatemia, Retinopathy... |
ORPHA:2611 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum, Diabetes mellitus, Lacrimation abnormality, Hypoproteinemia, Anemia |
ORPHA:2315 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Lymphaden... |
OMIM:615895 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Ab... |
ORPHA:470 |
| Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Missing ribs, Abnormal rib morphology, Hypopigmented skin patches, Eyelid colobo... |
ORPHA:1647 |
| Classic Galactosemia |
|
Cataract, Postural tremor, Hypoglycemia, Abnormal erythrocyte enzyme level, Osteoporosis, Sepsis,... |
ORPHA:79239 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Splenomegaly, Decreased n... |
OMIM:133540 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Epicanthus, Cataract, Dystonia, Abnormal pinna morphology, Hyperammonemia, Recurrent infections, ... |
OMIM:615471 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia... |
OMIM:227810 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae o... |
OMIM:602482 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... |
ORPHA:370959 |
| Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Joint stiffness, Congestive heart failure,... |
OMIM:608328 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... |
ORPHA:98870 |
| Mucolipidosis Type Iv |
|
EEG abnormality, Abnormality of retinal pigmentation, Retinopathy, Corneal opacity |
ORPHA:578 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity, Abnormal pupil morphology, Sensorineural hearing impairment,... |
ORPHA:90658 |
| Vici Syndrome |
|
Abnormality of retinal pigmentation, Recurrent respiratory infections, Cataract, Joint stiffness,... |
ORPHA:1493 |
| Trisomy 13 |
|
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Abnormal eyelash morphology, Sensor... |
ORPHA:3378 |
| Degcags Syndrome |
|
Osteopenia, Synophrys, Abnormality of skin pigmentation, Leukopenia, Iron deficiency anemia, Prem... |
OMIM:619488 |
| Shigellosis |
|
Hyponatremia, Acute colitis, Hypoglycemia, Abscess, Pneumonia, Myocarditis, Leukocytosis, Periton... |
ORPHA:810 |
| Scalp-Ear-Nipple Syndrome |
|
Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Supraventricular tachycar... |
OMIM:181270 |
| Braddock-Carey Syndrome 2 |
|
Atresia of the external auditory canal, Microphthalmia, Downslanted palpebral fissures, Thrombocy... |
OMIM:619981 |
| Proteus Syndrome |
|
Limbal dermoid, Splenomegaly, Downslanted palpebral fissures, Ptosis |
OMIM:176920 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Epistaxis, Conjugated hyperbilirubinemia, Splenomegaly, Rickets |
OMIM:211600 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Lacrimation abnormality |
ORPHA:1135 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ... |
OMIM:221800 |
| Glycogen Storage Disease Ib |
|
Hypoglycemia, Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Inflammation of the ... |
OMIM:232220 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, O... |
ORPHA:1052 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Fractures of the long bones, Osteoporosis, Epiphora |
ORPHA:319195 |
| Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbu... |
OMIM:617156 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Sinusitis, Corneal opacity, Joint stiffness, Splenomegaly, Sens... |
ORPHA:579 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Developmental cataract, Hyperphosphat... |
OMIM:127000 |
| Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Splenomegaly, Vasculitis, Optic atrophy, Uveiti... |
ORPHA:575 |
| Xfe Progeroid Syndrome |
|
Hypertension, Hypoalbuminemia, Corneal scarring |
OMIM:610965 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Pneumonia, Spotty hypopigmentation, Heart murmur, Hyperpigmentation of... |
ORPHA:1867 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Decreased circulating cortisol level, Hypoglycemic seizures, Hyperbilirubinemia |
OMIM:609734 |
| Baraitser-Winter Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Sensorineural hearing impairment, Aortic valve stenosis, Chori... |
OMIM:243310 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials,... |
OMIM:125250 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Recurrent skin infections, Eczema, Hearing impairment, Aganglionic megacolon, Abs... |
OMIM:308205 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Cupped ear, Joint contracture of the 4th finger, Joint contracture of the 5th fing... |
OMIM:618914 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Cataract, Sensorineural hearing impairment, Abnorm... |
ORPHA:2377 |
| Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Hypertension, Abnormality of bo... |
ORPHA:3156 |
| Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Corneal opacity, Joint stiffness, Splenomegaly, Hepatitis, Epip... |
ORPHA:584 |
| Carcinoid Syndrome |
|
Tricuspid regurgitation, Right ventricular failure, Heart murmur, Abnormal B-type natriuretic pep... |
ORPHA:100093 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Hyper... |
ORPHA:848 |
| Miller Fisher Syndrome |
|
Ptosis, Facial palsy, Mydriasis, Anisocoria, EEG with generalized slow activity |
ORPHA:98919 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Posterior embryotoxon, Increased circulating very long-chain fatty... |
OMIM:614887 |
| Yellow Fever |
|
Shock, Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 concentra... |
ORPHA:99829 |
| Mucopolysaccharidosis, Type Vii |
|
Epicanthus, Corneal opacity, Joint stiffness, Splenomegaly, Sensorineural hearing impairment, Rec... |
OMIM:253220 |
| Infant Botulism |
|
Hyponatremia, Ptosis, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydr... |
ORPHA:178478 |
| Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Flexion contracture, Optic atrophy, Developmental cata... |
OMIM:615663 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Craniosynostosis, Camptodactyly of toe, Low-set ears, Aniridia, Microphth... |
ORPHA:251038 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Synophrys, Protruding ear, Abnormality of skin pigmentation, Chorioretinal coloboma, Otitis media... |
OMIM:619475 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, A... |
ORPHA:449563 |
| Neuhauser Syndrome |
|
Osteopenia, Iridodonesis, Epicanthus, Hypoplasia of the iris, Hypercholesterolemia, Megalocornea,... |
OMIM:249310 |
| Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, Re... |
ORPHA:636 |
| Pituitary Apoplexy |
|
Hyponatremia, Ptosis, Hypoglycemia, Hypertension, Normochromic anemia, Hypotension, Mydriasis |
ORPHA:95613 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Sparse eyelashes, Aplastic anemia, Thrombocytopenia, Osteoporosis, Nasolacrimal duc... |
OMIM:224230 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... |
ORPHA:42775 |
| Nance-Horan Syndrome |
|
Retinal detachment, Cataract, Protruding ear, Microcornea, Microphthalmia |
ORPHA:627 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr... |
ORPHA:91500 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Intraventricular hemorrhage, Hy... |
OMIM:619055 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of finger, Joint stif... |
ORPHA:628 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... |
ORPHA:52368 |
| Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hearing impairment, Hepatosplenomegaly |
OMIM:614885 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cataract, Flaring of lower rib ca... |
ORPHA:168549 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia, Cataract, Diabetes mellitus, Morning glory anomaly, Sensorineural hearing impa... |
ORPHA:98673 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia |
ORPHA:1116 |
| Boutonneuse Fever |
|
Maculopapular exanthema, Skin rash, Vasculitis, Leukopenia, Increased circulating IgG level, Incr... |
ORPHA:83313 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Epicanthus, Elevated circulating creatine kinase concentration, Splenomegaly, ... |
OMIM:611881 |
| Lacrimal Duct Defect |
|
Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele, Epiphora |
OMIM:149700 |
| Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
| Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Osteoporosis, Hypoal... |
ORPHA:186 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Hypoglycemia, Portal hypertension, Pectus excavatum, Rick... |
OMIM:613658 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Myocardial infarction, Abn... |
ORPHA:447 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Retinal detachment, Absent vertebral body mineralization, Catarac... |
ORPHA:93296 |
| Cogan Syndrome |
|
Episcleritis, Aortic regurgitation, Keratitis, Leukocytosis, Sensorineural hearing impairment, Va... |
ORPHA:1467 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, ... |
OMIM:239000 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-... |
ORPHA:85443 |
| Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona... |
ORPHA:95716 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Cholecystitis, Hyperbiliru... |
OMIM:235700 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Sparse eyelashes, Persistence of hemoglobin F, Increased mean corpuscular volu... |
OMIM:300946 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Splenomegaly, Neutropeni... |
ORPHA:37042 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
| Chromomycosis |
|
Keratitis, Ankylosis, Osteolysis, Hypopigmented skin patches, Recurrent bacterial infections, Ker... |
ORPHA:182 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Sensorineural hearing impairment, Protruding ear, Pigmentary ... |
OMIM:614230 |
| Sunct Syndrome |
|
Palpebral edema, Increased tear production, Conjunctival hyperemia, Epiphora, Ptosis |
ORPHA:57145 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Severe sensorineural hearing impairment, Conductive hearing impairment, Iris coloboma, Facial pal... |
OMIM:620186 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Congestive heart failure, Leukocytosis, Hypoalbuminemia, Constrictiv... |
ORPHA:67 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ptosis, Pneumonia, Facial palsy, Severe infection, Abn... |
ORPHA:79138 |
| Usher Syndrome Type 3 |
|
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Iris hypopi... |
ORPHA:231183 |
| Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Low-set ears, Pete... |
OMIM:243605 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Wagro Syndrome |
|
Cataract, Corneal opacity, Hypertension, Aniridia, Downslanted palpebral fissures, Ptosis |
OMIM:612469 |
| H Syndrome |
|
Abnormal eyebrow morphology, Psoriasiform dermatitis, Hypertriglyceridemia, Recurrent fractures, ... |
ORPHA:168569 |
| Adams-Oliver Syndrome 2 |
|
Optic atrophy, Protruding ear, Developmental cataract, Narrow palpebral fissure, Low-set ears, Mi... |
OMIM:614219 |
| Warburg Micro Syndrome 3 |
|
Cataract, Flexion contracture, Optic atrophy, Developmental cataract, Microcornea, Shallow anteri... |
OMIM:614222 |
| Acrocraniofacial Dysostosis |
|
Telecanthus, Lacrimation abnormality, Craniosynostosis, Pectus excavatum, Downslanted palpebral f... |
ORPHA:949 |
| Weill-Marchesani Syndrome 1 |
|
Cataract, Ectopia lentis, Joint stiffness, Microspherophakia, Shallow anterior chamber, Mitral re... |
OMIM:277600 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Splenic rupture, Opisthotonus, Developmental cataract, Microphthalmia, Internal hemo... |
ORPHA:335 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification, ... |
OMIM:215045 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Corneal opacity, Craniosynostosis, Developmental glaucoma, Osteoporosis, Low-set ears... |
ORPHA:2409 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Acute colitis, Myocardial infarction, Leukocytosis, Schistocytosis... |
ORPHA:90038 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Right ventricular failure, Reduced circulating transferrin concentration, Intestinal... |
ORPHA:90363 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract |
ORPHA:363741 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent tonsillitis, Recurrent b... |
OMIM:613779 |
| Trichothiodystrophy 1, Photosensitive |
|
Cataract, Freckling, Macrotia, Flexion contracture, Recurrent infections, Microcornea, Protruding... |
OMIM:601675 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Tremor, Increased total iron binding capacity, Unconjugated hyperbilirubinemia... |
OMIM:613280 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Cataract, Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Developm... |
ORPHA:436174 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Hypermelanotic macule, Pneumonia, Autoimmune thrombocytopenia, ... |
OMIM:607944 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C... |
OMIM:603165 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Corneal opacity, Retinal degeneration, Hearing impairment |
OMIM:272200 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, White eyelashes, White eyebrow, Aganglionic meg... |
OMIM:609136 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cataract, Recurrent fractures, Abnormal rib morphology, Joint hyperflexibility, Decreased calvari... |
ORPHA:2772 |
| Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Corneal opacity, Patchy oste... |
ORPHA:2323 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Cataract, Opisthotonus, Choreoathetosis, Cardiomyopathy, Bone marrow hypocellularity, Infection a... |
ORPHA:445038 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Cataract, Band keratopathy, Re... |
ORPHA:79443 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total... |
ORPHA:90037 |
| Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Sensorineural h... |
ORPHA:44 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Abnormal lymphocyte proliferation, Recurrent viral infections, Elevated circu... |
OMIM:619573 |
| Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Increased serum beta-hexosaminidase, Hyperopic astigmatism, Craniosynostosi... |
OMIM:252600 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract |
OMIM:601794 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Optic disc pallor, Cataract |
OMIM:613730 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Lymphopenia, Abnormal testis morphology, Polycystic ovaries |
ORPHA:100 |
| Chime Syndrome |
|
Epicanthus, Corneal opacity, Hearing impairment, Osteolysis, Acute leukemia, Upslanted palpebral ... |
ORPHA:3474 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Epicanthus, Telecanthus, Posteriorly rotated ears, Sensorineural hearing impairment... |
OMIM:612582 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Premature graying... |
ORPHA:79474 |
| Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Arthrogryposis multiplex congenita, Low-set ears |
OMIM:616570 |
| Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Osteoporos... |
ORPHA:79259 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Epicanthus, Pancytopenia, Cataract, Telecanthus, Telangiectasia of the skin, Sensorineural hearin... |
ORPHA:85321 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Thrombocytosis, Increased mean platelet volume, Splenomegaly, Increased ser... |
OMIM:222470 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Elevated circulating creatine kinase concentration, Abnormally large globe, Sensorineur... |
OMIM:615249 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Cataract, Protruding ear, Narrow palpebral fissure, Astigmatism, Retinal coloboma, Ho... |
OMIM:618571 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cataract, EEG abnormality, Hypertrophic cardiomyopathy, Downslanted palpebral ... |
ORPHA:3173 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Neutropenia, Pulmonary arterial hypertension, Abnormal posturing, Thrombocyt... |
OMIM:614857 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbi... |
ORPHA:348 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
| Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Upper eyelid edema, Cafe-au-lait spot, Neonatal hyperbilirubinemia, Aplasia/Hypoplasia... |
ORPHA:293939 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Epicanthus, Pectus excavatum, Hypoalbuminemia, Camptodactyly, Coronal craniosynostosis, Joint con... |
OMIM:235510 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Skin rash, Increased total bilirubin |
ORPHA:90036 |
| Cockayne Syndrome A |
|
Hip contracture, Retinal atrophy, Cataract, Abnormal pinna morphology, Abnormal auditory evoked p... |
OMIM:216400 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Alacrima |
ORPHA:289483 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Elevated ... |
OMIM:236670 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Osteopetrosis, Thro... |
OMIM:615085 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Limitation of joint mobility, Abnormal vertebral segmentation and... |
ORPHA:90650 |
| Intermediate Uveitis |
|
Anterior uveitis, Cataract, Psoriasiform dermatitis, Macular scar, Vitreous haze, Epiretinal memb... |
ORPHA:279914 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retina... |
OMIM:620157 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria, Alacrima |
OMIM:300858 |
| Mucopolysaccharidosis Type 2 |
|
Conductive hearing impairment, Retinal degeneration, Papilledema, Recurrent ear infections, Abnor... |
ORPHA:580 |
| Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Joint laxity, Epicanthus, Telecanthus, Sparse eyelashes, Craniosynostosis, Pec... |
OMIM:613610 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... |
OMIM:619662 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:616649 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Opisthotonus |
OMIM:619685 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Cherry red ... |
OMIM:256540 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Epicanthus, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Pect... |
OMIM:618476 |
| Pseudo-Torch Syndrome 1 |
|
Cataract, Splenomegaly, Opacification of the corneal stroma, Dystonia, Low-set ears, Thrombocytop... |
OMIM:251290 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Angina pectoris, Corneal arcus, Increased HDL cholesterol concentration, Hy... |
OMIM:614025 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypocalcemia, Aniridia, Microphthalmia, Hypoplastic spleen, Decreased skull ossification |
OMIM:602361 |
| Chylomicron Retention Disease |
|
Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop... |
ORPHA:1304 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Corneal opacity, Recurrent fractures, Hypophosphatemic rickets, Hypopigmentation of t... |
OMIM:163200 |
| Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
| Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Highly arched eyebrow, Trichiasis, Epiblepharon, Peters anomaly, Sensori... |
OMIM:618460 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Camptodactyly of finger, Developmental cataract, Microphthalmia, Hearing impairment |
OMIM:610756 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote... |
OMIM:617049 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Low-set ears, Arthrogryposis multiplex conge... |
OMIM:208085 |
| Papillorenal Syndrome |
|
Joint laxity, Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpi... |
OMIM:120330 |
| Reynolds Syndrome |
|
Calcinosis, Gastrointestinal hemorrhage, Erythema nodosum, Splenomegaly, Raynaud phenomenon, Lip ... |
OMIM:613471 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Tremor, Decreased circulating antibody level, Hypocystinemia, Decrease... |
OMIM:617744 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Eosinophilia, Seborrheic dermatitis, Leukocytosis, Hepatosplenomegaly,... |
OMIM:274000 |
| Macrocephaly/Autism Syndrome |
|
Epicanthus, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Lymphopenia |
OMIM:605309 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Portal hypertension, Splenomegaly,... |
ORPHA:171 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Cataract, Hyperphosphatemia, C... |
ORPHA:79444 |
| Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Downslanted palpebral fissures, Impaired T cell function, Anemia |
ORPHA:30 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
| Cronkhite-Canada Syndrome |
|
Cataract, Generalized hyperpigmentation, Splenomegaly, Abnormality of skin pigmentation, Anemia, ... |
ORPHA:2930 |
| Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
| Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Optic... |
ORPHA:141099 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Normochromic anemia, Hypoalbuminemia, Thrombocytopenia, Intention... |
OMIM:254900 |
| Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
| Fanconi Anemia |
|
Abnormal eyelid morphology, Reduced bone mineral density, Abnormality of skin pigmentation, Leuko... |
ORPHA:84 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Chemosis |
OMIM:614034 |
| Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, External ear malformation, ... |
ORPHA:568 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, He... |
ORPHA:227990 |
| Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormal eyelid morphology, Upper eyelid coloboma, Astigmatism, Coronal craniosynos... |
ORPHA:2095 |
| Propionic Acidemia |
|
Pancytopenia, Hypoglycemia, Eczema, Cerebellar hemorrhage, Neutropenia, Osteoporosis, Hyperammone... |
OMIM:606054 |
| Galactosemia I |
|
Hemolytic anemia, Cataract, Increased level of galactitol in plasma, Increased level of galactona... |
OMIM:230400 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Sepsis, Abnormal left ventricular function, Leukopenia, Lymphocytosis, Hypocal... |
OMIM:619991 |
| Sandifer Syndrome |
|
Hematemesis, Abnormal posturing, Torticollis, Anemia |
ORPHA:71272 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Tremor, Hyperammonem... |
ORPHA:3008 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Aniso... |
ORPHA:99949 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
| Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... |
ORPHA:48435 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Partial albinism, Epistaxis, Ocu... |
ORPHA:79430 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Blepharophimosis, Ptosis |
ORPHA:1703 |
| Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Tricuspid regurgitation, Sensorineural hearing impairment, Low-set ears, Peters anoma... |
OMIM:618652 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis, Narrow chest |
ORPHA:1423 |
| De Barsy Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Epicanthus, Cataract, Corneal opacity, Generalize... |
ORPHA:2962 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
| Icf Syndrome |
|
Anemia, Epicanthus, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:182900 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia |
OMIM:180200 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cataract, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocuta... |
OMIM:240300 |
| Ogden Syndrome |
|
Maternal diabetes, Abnormal eyelid morphology, Ventricular tachycardia, Protruding ear, Iron defi... |
OMIM:300855 |
| Mosaic Trisomy 9 |
|
Corneal opacity, Camptodactyly of finger, Asplenia, Limitation of joint mobility, Upslanted palpe... |
ORPHA:99776 |
| Cockayne Syndrome Type 3 |
|
Flexion contracture, Microcornea, Premature graying of hair, Lentiglobus, Adult onset sensorineur... |
ORPHA:90324 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Bilateral ptosis, Sensorineural hearing i... |
ORPHA:1215 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Uplifted earlobe, Asplenia, Abnormal pupil morphology, Flexion contracture, Microcornea, Iris col... |
ORPHA:261552 |
| Al-Gazali Syndrome |
|
Osteopenia, Corneal opacity, Sclerocornea |
OMIM:609465 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Cataract, Uplifted earlobe, Recurrent pneumonia, Microcornea, Pulmonary arterial hype... |
OMIM:616449 |
| Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Epicanthus, Corneal opacity, Pectus excavatum, Synophrys, Osteoporosis, Upslant... |
ORPHA:488632 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Barrel-shaped chest, Increased bone mineral density, Osteoarthritis of the distal interphalangeal... |
ORPHA:93284 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyelashes, Abnormal pinna morphology, Sparse eyebrow, Elevated 8-dehydrocholeste... |
OMIM:302960 |
| Complement Factor H Deficiency |
|
Depletion of components of the alternative complement pathway, Recurrent bacterial infections, De... |
OMIM:609814 |
| Tyrosinemia Type 2 |
|
Tremor, Corneal opacity |
ORPHA:28378 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Sparse eyelashes, Optic atrophy, Microcornea, Keratoconjunctivitis sicca, Microphthal... |
OMIM:234050 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Cataract, Recurrent urinary tract infections, Decreased ... |
OMIM:609033 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Low-set, posteriorly rotated ears, Epicanthus, External ear malformation, Congestive heart failur... |
ORPHA:2505 |
| Blomstrand Lethal Chondrodysplasia |
|
Telecanthus, Increased bone mineral density, Cataract, Aplastic clavicle, Short thorax, Short rib... |
ORPHA:50945 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Synophrys, Lymphopenia |
ORPHA:391307 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Hypertension, Leukocoria, Telangiectasia |
OMIM:219250 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Premature graying of hair, Periodontitis, Hypermelanotic ... |
ORPHA:1775 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Conductive hearing impairment, Papilledema, Recurrent ear infections, Abnorm... |
ORPHA:217085 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Epicanthus, Highly arched eyebrow, Heart murmur, Recurrent infections, Anisocoria, Narrow palpebr... |
OMIM:618653 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Posteriorly rotated ears, Bilateral ptosis, Heart murmur... |
ORPHA:163979 |
| Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Abnormal eyebrow morphology, Cataract, Poliosis, Abnormal eyelash morphology,... |
ORPHA:3437 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Aortic regurgitation, Corneal opacity, Protruding ear, Developmental ca... |
OMIM:616603 |
| Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
| Lathosterolosis |
|
Epicanthus, Cataract, Hearing impairment, Anisopoikilocytosis, Abnormal platelet morphology, Micr... |
ORPHA:46059 |
| Zimmermann-Laband Syndrome |
|
Telecanthus, Cataract, Generalized hyperpigmentation, Joint hypermobility, Splenomegaly, Sensorin... |
ORPHA:3473 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... |
ORPHA:562639 |
| Arthrogryposis, Distal, Type 2A |
|
Recurrent respiratory infections, Epicanthus, Telecanthus, Hip contracture, Recurrent fractures, ... |
OMIM:193700 |
| Hypophosphatasia |
|
Hypercalcemia, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow chest, Anemia |
ORPHA:436 |
| Fanconi Anemia, Complementation Group S |
|
Epicanthus, Upslanted palpebral fissure, Long eyelashes, Blepharophimosis, Microphthalmia, Anemia |
OMIM:617883 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Portal ... |
OMIM:615688 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... |
OMIM:185000 |
| Mucopolysaccharidosis Type 6 |
|
Sinusitis, Joint stiffness, Splenomegaly, Recurrent upper respiratory tract infections, Opacifica... |
ORPHA:583 |
| Holoprosencephaly |
|
Anophthalmia, Abnormality of the spleen, Synophrys, Chorioretinal coloboma, Iris coloboma, Hypona... |
ORPHA:2162 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, He... |
ORPHA:227982 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Cataract, Tarsal synostosis, Camptodactyly of finger, Development... |
ORPHA:90652 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Conjunctival icterus, Increased mean corpuscular hemoglobin concen... |
OMIM:194380 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Hepatosplenomegaly, Lym... |
OMIM:618935 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness |
OMIM:229200 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Conductive hearing impairment, Papilledema, Recurrent ear infections, Abnorm... |
ORPHA:217093 |
| Carpenter Syndrome 1 |
|
Telecanthus, Epicanthus, Abnormal pinna morphology, Sagittal craniosynostosis, Conductive hearing... |
OMIM:201000 |
| Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Protruding ear, Low-set ears, Microphthalmia, Iris... |
ORPHA:85284 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Corneal ulceration, Corneal scarring, Decreased lacrimation |
OMIM:616488 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... |
ORPHA:77259 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Hypermelanotic macule, Skin rash, Elevated circulating C-react... |
ORPHA:32960 |
| Martsolf Syndrome 1 |
|
Joint laxity, Recurrent respiratory infections, Epicanthus, Cataract, Posteriorly rotated ears, C... |
OMIM:212720 |
| Intestinal Botulism |
|
Mydriasis, Ptosis |
ORPHA:178481 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hematochezia, Hyperbilirubinemia |
OMIM:214950 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Pulmonary embolism, Hyperlipidemia, Hypertension, Hypoalbuminemia |
ORPHA:567546 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology |
ORPHA:1513 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Tremor, Blepharospasm, Dystonia, Conjunctival hyperemia, Decreased lacrimation |
ORPHA:240071 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Leukopenia, Tubuloin... |
OMIM:251000 |
| Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Joint stiffness... |
ORPHA:2510 |
| Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Angina pectoris, Xanthelasma, Opacification of the corne... |
ORPHA:425 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis, Ptosis |
ORPHA:230800 |
| Stuve-Wiedemann Syndrome 1 |
|
Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Thin ribs... |
OMIM:601559 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Microphthalmia, Small earlobe, Cafe-au-lai... |
ORPHA:364577 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Orthostatic hypotension, Alacrima, Ptosis |
OMIM:615510 |
| Iatrogenic Botulism |
|
Orthostatic hypotension, Mydriasis, Ptosis |
ORPHA:254509 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Sensor... |
OMIM:612394 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Recurrent fractures, Sensorineural hearing impairment, Osteoporosis, Hypermyelin... |
OMIM:601812 |
| Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... |
ORPHA:209956 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Epicanthus, Hearing impairment, Bilateral microphthalmos, Multifocal epileptiform discharges, Ups... |
ORPHA:369891 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Ptosis, Pancytopenia, Recurrent respiratory infections, Posteriorly rotated ears, Portal hyperten... |
OMIM:613385 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Gastrointestinal hemorrhage, Hematochezia, Melena, Midclavicular hypoplasia, I... |
ORPHA:79076 |
| Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
| Antiphospholipid Syndrome, Familial |
|
Retinal detachment, Autoimmune thrombocytopenia, Keratitis, Vitritis, Central retinal artery occl... |
OMIM:107320 |
| 3Mc Syndrome 3 |
|
Corneal opacity, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:248340 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Epicanthus, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysac... |
OMIM:614576 |
| Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Corneal opacity, Joint stiffness, Osteoporosis, Mitral regurgitation, Prominent ste... |
OMIM:253010 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic disc pallor, Resting tremor, Optic neuropathy, Abnormal eyelid morphology, Abno... |
ORPHA:909 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Lymphadenopathy, Decreased eosino... |
ORPHA:2686 |
| Leigh Syndrome |
|
Cataract, Dystonia, Eczema, Multiple joint contractures, Hypoglycemia, Congestive heart failure, ... |
ORPHA:506 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Vitritis, Abnorm... |
ORPHA:2556 |
| Premature Ovarian Failure 12 |
|
Microphthalmia, Macular dystrophy |
OMIM:616947 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... |
ORPHA:1801 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
| Cockayne Syndrome |
|
Congenital contracture, Lentiglobus, Intention tremor, Contractures of the large joints, Abnormal... |
ORPHA:191 |
| Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Short thorax, Abnormal rib morphology, Reduced bone mineral density, Pectus cari... |
ORPHA:582 |
| Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Hyp... |
ORPHA:414 |
| Wound Botulism |
|
Mydriasis, Cardiac arrest, Ptosis |
ORPHA:178475 |
| Kindler Epidermolysis Bullosa |
|
Corneal opacity, Recurrent skin infections, Camptodactyly of finger, Flexion contracture, Cheilit... |
ORPHA:2908 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
ORPHA:85275 |
| Smith-Kingsmore Syndrome |
|
Hypoglycemia, Cafe-au-lait spot, Downslanted palpebral fissures, Thrombocytopenia, Decreased circ... |
OMIM:616638 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Tremor, Me... |
ORPHA:904 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Glycosuria |
OMIM:613404 |
| Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalan... |
OMIM:259600 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Recurrent bacterial skin infections, Splenomegaly, Abnormal circula... |
ORPHA:95159 |
| Refsum Disease, Classic |
|
Cataract, Congestive heart failure, Sensorineural hearing impairment, Elevated circulating phytan... |
OMIM:266500 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia |
OMIM:603776 |
| Tick-Borne Encephalitis |
|
Stiff neck, Facial palsy, Elevated circulating C-reactive protein concentration, Tremor, Meningit... |
ORPHA:297 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:306400 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Achilles tendon ... |
OMIM:612674 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Optic atrophy |
OMIM:274270 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Cataract, Diabetes mellitus, Sensorineural hearing impairment, Dilated cardiomyopath... |
OMIM:616541 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Epicanthus, Rieger anomaly, Abnormal pinna morphology, Highly... |
OMIM:194190 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
| Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Cataract, Sparse eyelashes, Sparse eyebrow, Optic disc coloboma... |
OMIM:234100 |
| Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad ribs, Downslanted palpebral fissures, Thin bony... |
ORPHA:85184 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Sepsis, Nephritis, In... |
ORPHA:2552 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Abnormally ossified vertebrae, Optic atrophy, Microcornea, Micro... |
ORPHA:3301 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
| Focal Dermal Hypoplasia |
|
Corneal opacity, Camptodactyly of finger, Hearing impairment, Ectopia lentis, Telangiectasia of t... |
ORPHA:2092 |
| Marfan Syndrome |
|
Aortic regurgitation, Retinal detachment, Cataract, Tricuspid regurgitation, Ectopia lentis, Cong... |
OMIM:154700 |
| Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... |
OMIM:603903 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Splenomegaly, Hypopigmented s... |
ORPHA:163746 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calva... |
OMIM:244460 |
| Mend Syndrome |
|
Telecanthus, Cataract, Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevat... |
ORPHA:401973 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... |
ORPHA:760 |
| Hardikar Syndrome |
|
Recurrent urinary tract infections, Lacrimal duct stenosis, Cholangitis, Portal hypertension, Hyp... |
OMIM:301068 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Hyperglycemia, Rod-cone dystrophy... |
OMIM:615986 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Lymphopenia, Anemia, Cryptorchidism |
OMIM:620365 |
| Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Posterior subcapsular cataract, ... |
OMIM:602668 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Epicanthus, Hyperpigmentation of the skin, Flexion contracture, Reticulocytopenia, ... |
OMIM:227645 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Meningitis, Recurrent pneumonia... |
OMIM:617718 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r... |
ORPHA:1145 |
| Eec Syndrome |
|
Entropion, Lacrimation abnormality, Sparse eyebrow, Keratitis, Corneal erosion, Hypoplasia of the... |
ORPHA:1896 |
| Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
| Curry-Jones Syndrome |
|
Craniosynostosis, Optic disc coloboma, Hypopigmented skin patches, Microphthalmia, Iris coloboma |
ORPHA:1553 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal nasolacrimal system morphology, Corneal opacity, Abnormal eye... |
ORPHA:2396 |
| Werner Syndrome |
|
Cataract, Hypertriglyceridemia, Elevated hemoglobin A1c, Diabetes mellitus, Osteoporosis, Reduced... |
OMIM:277700 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Bitot spots of the conjunctiva |
OMIM:277350 |
| Grant Syndrome |
|
Abnormal cortical bone morphology, Abnormal rib morphology, Joint hyperflexibility, Narrow chest,... |
ORPHA:2097 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Cataract, Splenomegaly, Epiphyseal stippling, Hypertension, Hypoalbuminemia, Elevated... |
OMIM:270400 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Uveitis, Loc... |
OMIM:608710 |
| Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Corneal opacity, Pneumonia, Joint stiffness, Splenomegaly, Recurrent upp... |
OMIM:253200 |
| Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Mydriasis |
OMIM:619365 |
| Congenital Disorder Of Deglycosylation 1 |
|
Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Action tremor, Osteoporosi... |
OMIM:615273 |
| Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Craniosynostosis, Sparse eyebrow, Upslanted palpebral fissure, Ble... |
OMIM:613451 |
| Fanconi Anemia, Complementation Group F |
|
Hyperpigmentation of the skin, Pneumonia, Anemia, Leukopenia, Microtia, Bone marrow hypocellulari... |
OMIM:603467 |
| 12Q14 Microdeletion Syndrome |
|
Thick eyebrow, Diabetes mellitus, Tremor, Abnormality of the spleen, Synophrys, Osteopoikilosis, ... |
ORPHA:94063 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
| Warburg Micro Syndrome 2 |
|
Cataract, Asymmetry of the ears, Flexion contracture, Optic atrophy, Developmental cataract, Micr... |
OMIM:614225 |
| Ophthalmomandibulomelic Dysplasia |
|
Decreased mobility 3rd-5th fingers, Abnormal thorax morphology, Opacification of the corneal stro... |
OMIM:164900 |
| Frontorhiny |
|
Low-set, posteriorly rotated ears, Epicanthus, Cataract, Camptodactyly of finger, Microphthalmia,... |
ORPHA:391474 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Splenomegaly, Hyperbilirubinemia, Steatorrhea |
OMIM:613812 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Hyperostosis Cranialis Interna |
|
Calvarial hyperostosis, Epiphora, Osteosclerosis of the base of the skull, Hyperostosis cranialis... |
OMIM:144755 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef... |
ORPHA:99827 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Hypoglycemia, Buphthalmos, Joint contracture, Neutropenia, Recurrent lower respirator... |
OMIM:618005 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, ... |
OMIM:613001 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Tremor, Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
| Oculodentodigital Dysplasia |
|
Epicanthus, Cataract, Hypoglycemia, Camptodactyly of finger, External ear malformation, Cranial h... |
ORPHA:2710 |
| Plague |
|
Chapped lip, Tachycardia, Skin rash, Hearing impairment, Erythema nodosum, Splenomegaly, Lymphade... |
ORPHA:707 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Epicanthus, Cataract, Optic disc hypoplasia, Aganglionic megacolon, Radial club... |
ORPHA:959 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Recurrent fractures, Sensor... |
OMIM:268315 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
| Baraitser-Winter Syndrome 2 |
|
Telecanthus, Abnormal pinna morphology, Highly arched eyebrow, Hearing impairment, Long palpebral... |
OMIM:614583 |
| Foodborne Botulism |
|
Arrhythmia, Mydriasis, Ptosis |
ORPHA:228371 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Abnormality of retinal pigmentation, Short thorax, Abnormal rib mor... |
ORPHA:474 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... |
ORPHA:466677 |
| Agel Amyloidosis |
|
Cataract, Facial palsy, Bilateral ptosis, Cardiomyopathy, Keratoconjunctivitis sicca, Abnormal sp... |
ORPHA:85448 |
| Pearson Syndrome |
|
Hypocalcemia, Neutropenia, Reticulocytosis, Cardiomyopathy, Hypokalemia, Hypomagnesemia, Glycosur... |
ORPHA:699 |
| Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Multiple c... |
ORPHA:158000 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Down Syndrome |
|
Joint laxity, Epicanthus, Cataract, Aganglionic megacolon, Upslanted palpebral fissure, Type II d... |
ORPHA:870 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Telangiectasia of the skin, Leukocoria, Reduced bone mineral density, Multipl... |
ORPHA:1556 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Megalocor... |
ORPHA:536471 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Kapur-Toriello Syndrome |
|
Cataract, Camptodactyly of finger, Retinal coloboma, Low-set ears, Conductive hearing impairment,... |
OMIM:244300 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... |
OMIM:615139 |
| Rift Valley Fever |
|
Skin rash, Retinitis, Hematemesis, Severe viral infection, Retinal hemorrhage, Uveitis, Macular e... |
ORPHA:319251 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Posteriorly rotated ears, Upslanted palpebral fissure, Microcornea, Low-set ears, Ble... |
OMIM:156610 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Acne, Type II diabetes mellitus, Microphthalmia, A... |
ORPHA:3191 |
| Microphthalmia, Syndromic 5 |
|
Joint laxity, Anophthalmia, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Mic... |
OMIM:610125 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia |
OMIM:144010 |
| Carpenter Syndrome |
|
Craniosynostosis, Abnormal cornea morphology, Polysplenia |
ORPHA:65759 |
| Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... |
ORPHA:77297 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv... |
ORPHA:449400 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Otitis media, Rod-cone dystrophy, Chronic sinusitis,... |
OMIM:300455 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Cortical th... |
ORPHA:93325 |
| Mowat-Wilson Syndrome |
|
Cataract, Aganglionic megacolon, Uplifted earlobe, Cupped ear, Microcornea, Large earlobe, Ectopi... |
OMIM:235730 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the ant... |
OMIM:601552 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Cataract, Elevated circulating creatine kinase ... |
OMIM:253800 |
| Moebius Syndrome |
|
Epicanthus, Corneal opacity, Facial palsy, Hearing impairment, Multiple cafe-au-lait spots, Arthr... |
ORPHA:570 |
| Collagenoma, Familial Cutaneous |
|
Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con... |
OMIM:115250 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
| Short Syndrome |
|
Joint laxity, Telecanthus, Cataract, Rieger anomaly, Sensorineural hearing impairment, Insulin re... |
OMIM:269880 |
| Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Telecanthus, Craniosynostosis, Microphthalmia, Downslanted pal... |
ORPHA:2117 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive protein concent... |
OMIM:612852 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Sclerocornea, Microphthalmia, Iris coloboma, Hearing impairment |
ORPHA:77298 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Conjugated hyperbilirubinemia, Early ossification of capital femoral epiph... |
OMIM:208500 |
| Inhalational Botulism |
|
Mydriasis, Ptosis |
ORPHA:254504 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis |
OMIM:615508 |
| Alacrima, Congenital, Autosomal Dominant |
|
Punctate corneal epithelial erosions, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Alacri... |
OMIM:103420 |
| Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia, Limb dystonia |
ORPHA:621 |
| Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
| Angiostrongyliasis |
|
Stiff neck, Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased ... |
ORPHA:74 |
| Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Thrombocytopenia, Osteoporosis, Pre... |
OMIM:613990 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Pancytopenia, Spontaneous, recurrent epistaxis, Corneal opacity, Abnormality of the ... |
ORPHA:2072 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Beaded ribs, Generalized osteosclerosis, Enlargement of the costochondral junct... |
ORPHA:89936 |
| Mosaic Trisomy 8 |
|
Corneal opacity, Camptodactyly of finger, Limitation of joint mobility, Abnormal rib morphology, ... |
ORPHA:96061 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Cataract, Flexion contracture, Corneal scarring, Conjunctivitis, Anemia |
OMIM:226600 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Posteriorly rotated ears, Highly arched eyebrow, Pulmonary arterial hypertensi... |
OMIM:300887 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Cataract, Skin rash, Generalized dystonia, Tachycardia, Dilated cardiomyopathy, Hyp... |
OMIM:618321 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Joint hypermobility, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, In... |
ORPHA:85410 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia |
OMIM:617827 |
| Gomez-Lopez-Hernandez Syndrome |
|
Posteriorly rotated ears, Craniosynostosis, Low-set ears, Opacification of the corneal stroma, Do... |
OMIM:601853 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:601847 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Freckling, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic... |
OMIM:610651 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Raine Syndrome |
|
Increased bone mineral density, Highly arched eyebrow, Pectus excavatum, Subperiosteal bone forma... |
OMIM:259775 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Epicanthus, Cataract, Sparse eyelashes, Underfolded helix, Absent eyelashes, Spar... |
OMIM:268400 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Bradycardia, Hypercholesterolemia, Abnormal cir... |
ORPHA:90674 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
| Pycnodysostosis |
|
Joint laxity, Abnormal clavicle morphology, Increased bone mineral density, Generalized osteoscle... |
ORPHA:763 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Epicanthus, Microcytic anemia, HbH hemoglobin, Downslanted palpebral fissures, Aplasia/Hypoplasia... |
ORPHA:98791 |
| Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Morbilliform rash, Abscess, Vasculiti... |
ORPHA:228123 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Thin ribs, Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic... |
ORPHA:93324 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Corneal opacity, Horizontal inferior border of scapula, Short thorax, P... |
ORPHA:239 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cataract, Elevated circulating creatine kinase concentration, Tremor, Athetosis, Dystonia, Alacrima |
OMIM:615356 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
| Dubowitz Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Telecanthus, Cataract, Eczema, Abnormality of neut... |
ORPHA:235 |
| Serotonin Syndrome |
|
Tachycardia, Tremor, Hypertension, Hypotension, Abnormality of the autonomic nervous system, Mydr... |
ORPHA:43116 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cataract, Sparse eyelashes, Reticulated skin pigmentation, ... |
OMIM:305000 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retina... |
OMIM:620155 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Upslanted palpebral fissure, Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Entropion, Cataract, Hypermelanotic macul... |
ORPHA:910 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Cupped ear, Ocular albinism, Upslanted palpebral fissure, Microtia, Blepharophimosis, Microphthalmia |
ORPHA:1352 |
| Treacher-Collins Syndrome |
|
Cataract, Absent eyelashes, Blepharospasm, Eyelid coloboma, Microtia, Hypoplasia of the thymus, A... |
ORPHA:861 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Mixed hypo- and hyperpigmentation of the skin, Abnormality of the sp... |
ORPHA:79456 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Epicanthus, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, Ec... |
ORPHA:83617 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Anemia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperpigmentation of t... |
OMIM:175500 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Megalocornea, Hypopigmentation of the skin, Spar... |
OMIM:252500 |
| Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Craniosynostosis, Optic atrophy, Microp... |
ORPHA:1528 |
| Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Hypoglycemi... |
OMIM:615577 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Generalized dystonia, Opisthotonus |
ORPHA:216866 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Desmosterolosis |
|
Epicanthus, Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Arthrogry... |
OMIM:602398 |
| Neurooculorenal Syndrome |
|
Iris atrophy, Decreased circulating cortisol level, Highly arched eyebrow, Conjugated hyperbiliru... |
OMIM:620305 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointe... |
ORPHA:139402 |
| Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
| Charge Syndrome |
|
Epicanthus, Lacrimation abnormality, Highly arched eyebrow, Abnormal rib morphology, Eyelid colob... |
ORPHA:138 |
| Developmental And Epileptic Encephalopathy 1 |
|
EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, Dystonia, Microphthalmia |
OMIM:308350 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Epicanthus, Lacrimation abnormality |
ORPHA:2916 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevat... |
OMIM:613327 |
| Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Tremor, Choreoathetosis, EEG abnormality, Cardiomyopathy, Abnorma... |
ORPHA:2131 |
| Juvenile Polyposis Syndrome |
|
Hematochezia, Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Epicanthus, Optic neuropathy, Hearing impairment, Phthisis bulbi, Optic atrophy, Sclerosis of sku... |
OMIM:619727 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Telecanthus, Anterior chamber synechiae |
OMIM:601499 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Highly arched eyebrow, Cupped ear, Microcornea, Blepharophimosis, Microphthalmia, Ep... |
OMIM:110100 |
| Primary Familial Polycythemia |
|
Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Conjunctivitis, Absent eyebrow, Abnormal eyelash morphology,... |
ORPHA:2273 |
| Oculodentodigital Dysplasia |
|
Epicanthus, Cataract, Abnormal pinna morphology, Conductive hearing impairment, Uveitis, Microcor... |
OMIM:164200 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
| Witteveen-Kolk Syndrome |
|
Uplifted earlobe, Protruding ear, Anisocoria, Intracranial hemorrhage, Shallow orbits, Thickened ... |
OMIM:613406 |
| Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Retinal coloboma, Atresia of the external auditory canal, Low-set ears,... |
ORPHA:2328 |
| Harlequin Ichthyosis |
|
Recurrent respiratory infections, Cataract, Sudden cardiac death, Limitation of joint mobility, E... |
ORPHA:457 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures... |
OMIM:229400 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Lacrimal duct atresia, Ventricular tachycar... |
OMIM:300952 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Absent eyebrow, Hyperpigmentation of the skin, Splenomegaly, Loss o... |
OMIM:263700 |
| Branchiootorenal Syndrome 1 |
|
Gustatory lacrimation, Lacrimal duct aplasia, Lacrimation abnormality, Lacrimal duct stenosis |
OMIM:113650 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Sparse eyebrow, Recurrent pneumonia, Developmental cataract, Microcornea, Pulmonary a... |
ORPHA:464738 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El... |
OMIM:614643 |
| Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Synophrys, Protruding ear, Decreased circulating total IgM, Decreased circulating IgG level, Decr... |
OMIM:300861 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Epicanthus, Cataract, Posteriorly rotated ears, Brushfield spots, Sensorineura... |
OMIM:214100 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Osteomyelitis, Flexion contracture of finger, ... |
ORPHA:88628 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Diabetes mellitus... |
ORPHA:412 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Recurrent cornea... |
OMIM:256800 |
| 3Q29 Microdeletion Syndrome |
|
Cataract, Abnormality of skin pigmentation, Joint hyperflexibility, Pulmonary arterial hypertensi... |
ORPHA:65286 |
| Blau Syndrome |
|
Large vessel vasculitis, Abnormal optic nerve morphology, Posterior uveitis, Facial palsy, Retrob... |
ORPHA:90340 |
| Duane-Radial Ray Syndrome |
|
Epicanthus, Cataract, Optic disc hypoplasia, Facial palsy, Aganglionic megacolon, Sensorineural h... |
OMIM:607323 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... |
OMIM:137100 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
| Arachnoid Cyst |
|
Ptosis, Facial palsy, Subarachnoid hemorrhage, Severe infection, Cranial nerve compression, Mydri... |
ORPHA:2356 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Conductive hearing impairment, Bronchiectasis, Abnormal cornea morphology, C... |
OMIM:244400 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hyperpigmentation of the skin, Reticulocytopenia, Anemia, Neutropenia, Microphthalm... |
OMIM:600901 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Progressive hearing impairment, Lymphocytosis, Hypochromi... |
ORPHA:514 |
| Superficial Siderosis |
|
Subarachnoid hemorrhage, Abnormality of the vestibulocochlear nerve, Anisocoria, Abnormality of t... |
ORPHA:247245 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Epicanthus, Splenomegaly, Osteopetrosis, Cafe-au-lait spot, Hypopigment... |
OMIM:618541 |
| Lymphedema-Distichiasis Syndrome |
|
Ptosis, Recurrent urinary tract infections, Cataract, Recurrent skin infections, Diabetes mellitu... |
ORPHA:33001 |
| Bloom Syndrome |
|
Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Spotty hypopigmentation, B... |
OMIM:210900 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunc... |
OMIM:269200 |
| Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Mixed hearing impairment, Long eyebrows, Optic atrophy, Long eyelashes, S-shaped pa... |
OMIM:201180 |
| Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Thin bony cortex, Diabetes mellitus, Hypercalcemia, Osteomalacia, F... |
ORPHA:249 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
| Cenani-Lenz Syndrome |
|
Ptosis, Cataract, Abnormal rib morphology, Radioulnar synostosis, Synostosis of carpal bones, Syn... |
ORPHA:3258 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Choroidal neovascularization, Raynaud phenomenon, ... |
OMIM:259900 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal rib morphology, Narrow chest |
ORPHA:1354 |
| Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
| Alacrima, Congenital, Autosomal Recessive |
|
Punctate corneal epithelial erosions, Alacrima |
OMIM:601549 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Osteoporosis, Rickets, Thyroiditis, Iron deficiency anemia, Recurrent ... |
OMIM:212750 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Cataract, Elevated circulating creatine kinase concentration, Tremor, Hemat... |
ORPHA:79095 |
| Dyskeratosis Congenita, Digenic |
|
Sparse eyelashes, Bilateral ptosis, Recurrent infections, Abnormality of skin pigmentation, Decre... |
OMIM:620040 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
| Pelvis-Shoulder Dysplasia |
|
Abnormal pinna morphology, Camptodactyly of finger, Bilateral microphthalmos, Microcornea, Microt... |
ORPHA:2839 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Epicanthus, Posteriorly rotated ears, Hypsarrhythmia, Low-set ears, Recurrent otitis media, Micro... |
OMIM:618494 |
| Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
| White Forelock With Malformations |
|
Epicanthus, Abnormal rib morphology, Joint hyperflexibility, White forelock, Sprengel anomaly |
ORPHA:2475 |
| Meckel Syndrome |
|
Accessory spleen, Low-set, posteriorly rotated ears, Cataract, Abnormal chorioretinal morphology,... |
ORPHA:564 |
| Nance-Horan Syndrome |
|
Developmental cataract, Microcornea, Posterior Y-sutural cataract, Microphthalmia, Macrotia |
OMIM:302350 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Conductive hear... |
ORPHA:244 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Abnormality of skin pigmentation, Neutropenia, Microphth... |
OMIM:227650 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia, Opisthotonus |
ORPHA:95232 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Iris atrophy, Cataract, Recurrent fractures, Phthisis bulbi, Osteoporosis, Increased ... |
OMIM:259770 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Folliculitis, Conjunctivitis, Blepharitis |
OMIM:612843 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Optic nerve compression, Splenomegaly, Recurrent pneumonia, ... |
OMIM:612301 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
| Saul-Wilson Syndrome |
|
Sensorineural hearing impairment, Cataract, Hearing impairment, Neutropenia |
OMIM:618150 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Delayed proximal femoral epiphyseal ossification, Bradycardia, Increased circulating thyroglobuli... |
ORPHA:90673 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration, Buphthalmos, Mic... |
OMIM:616538 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ptosis, Epicanthus, Pure red cell aplasia, Erythroid hypoplasia, Developm... |
ORPHA:124 |
| Aspergillosis |
|
Osteomyelitis, Eosinophilia, Keratitis, Dacryocystitis, Abnormal rib morphology, Intracranial hem... |
ORPHA:1163 |
| Trisomy 18 |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Epicanthus, Cataract, Cam... |
ORPHA:3380 |
| Hypercholesterolemia, Familial, 1 |
|
Xanthelasma, Corneal arcus |
OMIM:143890 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Pectus excavatum, Abnormal rib morphology, Fused cervical vertebrae... |
ORPHA:2522 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Sha... |
ORPHA:740 |
| Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Peters anomaly, H... |
OMIM:309801 |
| Vascular Ehlers-Danlos Syndrome |
|
Osteoarthritis, Abnormal pupil morphology, Abnormality of skin pigmentation, Internal hemorrhage,... |
ORPHA:286 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Microphthalmia, Hypocalcemic seizures |
OMIM:241410 |
| Donnai-Barrow Syndrome |
|
Retinal detachment, Cataract, Retinal dystrophy, Posteriorly rotated ears, Sensorineural hearing ... |
OMIM:222448 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Po... |
ORPHA:280921 |
| Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Partial albinism, Synophrys, Blue irides, Premature ... |
OMIM:193500 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Eyelid coloboma, Anophthalmia, Orbital cyst |
OMIM:164180 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Lacrimal duct stenosis, Down-sloping shoulders, Periorbital dermoid cyst, Conju... |
OMIM:615560 |
| Huntington Disease-Like 1 |
|
Abnormal posturing |
ORPHA:157941 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Epicanthus, Abnormal pinna morphology, Hypoglycemia, Sensorineural hearing im... |
OMIM:607143 |
| Desmosterolosis |
|
Increased bone mineral density, Epicanthus, Splenomegaly, Osteopetrosis, Downslanted palpebral fi... |
ORPHA:35107 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Hypopigmentation of the skin, Epicanthus, Posteriorly rotated ear... |
OMIM:301066 |
| Monosomy 18P |
|
Epicanthus, Generalized dystonia, Protruding ear, Abnormal antihelix morphology, Hypertension, Mi... |
ORPHA:1598 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Abnormality of skin pigmentation, Bone marrow hypocellul... |
OMIM:227646 |
| Botulism |
|
Arrhythmia, Mydriasis |
ORPHA:1267 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Epicanthus, Transient neutropenia, Cataract, Chronic neutropenia, Sensorineural hearing impairmen... |
ORPHA:500095 |
| Achondrogenesis Type 1B |
|
Short thorax, Abnormal rib morphology, Narrow chest, Abnormal enchondral ossification |
ORPHA:93298 |
| Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Leukopenia, Tubulointersti... |
ORPHA:797 |
| Femoral-Facial Syndrome |
|
Maternal diabetes, Rib fusion, Abnormal rib morphology, Upslanted palpebral fissure, Radioulnar s... |
ORPHA:1988 |
| Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Sc... |
OMIM:600920 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Telecanthus, Pectus excavatum, Astigmatism, Hooded upper eyelid, Alacrima, Ptosis |
OMIM:618548 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Orthostatic hypotension due to autonomic dysfunction, Abscess, Corneal ... |
ORPHA:642 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Abnormal pinna morphology, Aganglionic megacolon, Hearing impairment, Optic disc co... |
OMIM:309800 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Abnormal posturing, Dystonia, Titubation |
ORPHA:225147 |
| Rasmussen Subacute Encephalitis |
|
Hemidystonia, Continuous spike and waves during slow sleep, Increased theta frequency activity in... |
ORPHA:1929 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Downslanted palpebral fissures, Peters anomaly |
OMIM:614526 |
| Linear Nevus Sebaceus Syndrome |
|
Telecanthus, Melanocytic nevus, EEG abnormality, Microphthalmia, Irregular hyperpigmentation, Iri... |
ORPHA:2612 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
| Fucosidosis |
|
Corneal opacity, Hearing impairment |
ORPHA:349 |
| Nocardiosis |
|
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Dacryocystitis, ... |
ORPHA:31204 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Lacrimal duct atresia, Lacrimal duct aplasia, Conjunctivitis, Alacrima |
OMIM:620192 |
| Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Myositis, Generalized hyperpigmentation, Pericarditis,... |
ORPHA:3452 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
| Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Pulmonary arterial hypertensio... |
ORPHA:2905 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short thorax, Abnormal rib morphology, Upslanted palpebral fissure, Posterior rib f... |
ORPHA:1797 |
| Pterygium Of Conjunctiva And Cornea |
|
Abnormal conjunctiva morphology, Pterygium |
OMIM:178000 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Corneal opacity, Posteriorly rotated ears, Synophrys, Sensorineural hearing impairme... |
OMIM:608670 |
| Cousin Syndrome |
|
Posteriorly rotated ears, Humeroradial synostosis, Microcornea, Narrow palpebral fissure, Wrist f... |
OMIM:260660 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
| Lethal Congenital Contracture Syndrome 5 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Subdural hemorrhage, Ret... |
OMIM:615368 |
| Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Epicanthus, Highly arched ey... |
ORPHA:280 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Sparse eyebrow, Synophrys, Buphthalmo... |
ORPHA:495875 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Increased circulating cortisol level, Cataract, Hypopigmented skin patches, Opacification of the ... |
ORPHA:3453 |
| Complement Factor B Deficiency |
|
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter... |
OMIM:615561 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Abnormal antihelix morphology, Large earlobe, Hypocalcemia, Low-set ears, ... |
ORPHA:1438 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Telecanthus, Fractured radius, Beaded ribs, Multiple prenatal... |
OMIM:616897 |
| Lymphedema-Distichiasis Syndrome |
|
Ptosis, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Arrhythmi... |
OMIM:153400 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| 2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Camptodactyly of finger, Synophrys, Optic disc coloboma, Low-set ears, Microphthalmia... |
ORPHA:251014 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Limited hip extension, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hy... |
OMIM:614653 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Cataract, Tremor, Sensorineural hearing impairment, Neutropenia, Bradycardia, Dystonia, Neonatal ... |
OMIM:617248 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Cataract, Absent eyelashes, Hyperlipidemia, Flexion contracture, Lim... |
ORPHA:90153 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Alagille Syndrome 1 |
|
Posterior embryotoxon, Hypertriglyceridemia, Cataract, Band keratopathy, Abnormal rib morphology,... |
OMIM:118450 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Orthostatic hypotension, Hypoglycemia, Eosino... |
ORPHA:199299 |
| 1Q21.1 Microdeletion Syndrome |
|
Epicanthus, Cataract, Sensorineural hearing impairment, Joint hyperflexibility, Microphthalmia, I... |
ORPHA:250989 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Lympha... |
ORPHA:1572 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Decreased circ... |
OMIM:610984 |
| Phaver Syndrome |
|
Epicanthus, Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Radioulnar synosto... |
ORPHA:2876 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Hearing impairment, Multifocal... |
ORPHA:369837 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Limitation of joint mobility, Shield chest, Opacification of the corneal str... |
OMIM:313400 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, EEG with generalized slow activity, Orthostatic hypotension, ... |
ORPHA:99027 |
| Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Epicanthus, Ectropion, Catar... |
ORPHA:2308 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Pectus carinatum... |
OMIM:259440 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Cupped ear, Flexion cont... |
OMIM:263650 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Sparse eyelashes, ... |
OMIM:250250 |
| Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia, Alacrima |
OMIM:240000 |
| Chops Syndrome |
|
Cataract, Tracheomalacia, Splenomegaly, Synophrys, Optic atrophy, Long eyelashes, Aspiration pneu... |
OMIM:616368 |
| Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Bone marrow hypocellularity, Anemia, Radial dysplasia |
OMIM:617244 |
| Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Epicanthus, Abnormally ossified vertebrae, Flaring of lower ... |
ORPHA:175 |
| Hallermann-Streiff Syndrome |
|
Telecanthus, Sparse eyelashes, Recurrent fractures, Sparse eyebrow, Congestive heart failure, Uve... |
ORPHA:2108 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Corneal opacity, Camptodactyly of finger, Absent eyelashes, Corneal e... |
ORPHA:920 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Retinal detachment, Optic disc pallor, Corneal opacity, Ankle flexion contr... |
ORPHA:464311 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets, Corneal crystals |
OMIM:219900 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
| Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
| Dermatopathia Pigmentosa Reticularis |
|
Abnormal conjunctiva morphology |
OMIM:125595 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Joint laxity, Epicanthus, Sparse eyebrow, Synophrys, Protruding ear, Upslanted palpebral fissure,... |
OMIM:620098 |
| Mycophenolate Mofetil Embryopathy |
|
Eyelid coloboma, Anotia, Microtia, Atresia of the external auditory canal, Chorioretinal coloboma... |
ORPHA:268249 |
| Noonan Syndrome 14 |
|
Epicanthus, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Lymphopenia, Downslanted palp... |
OMIM:619745 |
| Joubert Syndrome 14 |
|
Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Morning glory anomaly, Optic atrophy... |
OMIM:614424 |
| Fanconi Anemia, Complementation Group J |
|
Multiple cafe-au-lait spots, Microphthalmia, Bone marrow hypocellularity |
OMIM:609054 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Osteoporosis, Pectus carin... |
ORPHA:93351 |
| Mosaic Trisomy 1 |
|
Abnormal pinna morphology, Camptodactyly of finger, Elbow flexion contracture, Congenital bilater... |
ORPHA:1692 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Osteoporosis, Xanthelasma, A... |
OMIM:213700 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Congestive heart failure, Osteolysis, Xanthelasma,... |
ORPHA:35687 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Epicanthus, Missing ribs, Abnormal rib morphology, Joint hyperflexibility, Downslanted palpebral ... |
ORPHA:2759 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, P... |
OMIM:619534 |
| Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
| Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, EEG with focal spike waves, Tremor, EEG with irregular general... |
ORPHA:1942 |
| Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract, Ptosis |
ORPHA:1069 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs |
OMIM:615633 |
| Osteogenesis Imperfecta |
|
Osteopenia, Aortic regurgitation, Mixed hearing impairment, Corneal opacity, Recurrent fractures,... |
ORPHA:666 |
| Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Meningitis, Infectious encephalitis, Acne, R... |
ORPHA:117 |
| Monosomy 9Q22.3 |
|
Epicanthus, Cataract, Joint hyperflexibility, Low-set ears, Retinopathy, Microphthalmia, Thickene... |
ORPHA:77301 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Enl... |
ORPHA:79078 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
| Digeorge Syndrome |
|
Acne, Impaired T cell function, Sclerocornea, Seborrheic dermatitis, Splenomegaly, Recurrent pneu... |
OMIM:188400 |
| Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Hearing impairment, Vitreous floaters, Poliosis, Vitri... |
ORPHA:79098 |
| Roberts Syndrome |
|
Cataract, Progressive flexion contractures, Craniosynostosis, External ear malformation, Knee fle... |
ORPHA:3103 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Mitral stenosis, Opacification of the corneal stroma |
OMIM:231005 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Cataract, Down-sloping shoulders, Orbital cyst, Irregular ossification of hand ... |
OMIM:109400 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... |
ORPHA:449427 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari... |
OMIM:127550 |
| Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia, Corneal opacity, Aganglionic megacolon |
ORPHA:2059 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... |
ORPHA:449395 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
| Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Thin clavicles, Thin ribs, Short ribs... |
OMIM:228520 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Telecanthus, Osteopetrosis |
ORPHA:1522 |
| Dysostosis, Stanescu Type |
|
Pectus excavatum, Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Recurrent respiratory infections, Telecanthus, Cataract, Mitral stenosis, Recurrent f... |
ORPHA:955 |
| Microphthalmia, Isolated 8 |
|
Retinal detachment, Entropion, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re... |
OMIM:615113 |
| Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... |
OMIM:606519 |
| Cat Eye Syndrome |
|
Epicanthus, Chorioretinal coloboma, Low-set ears, Pulmonic stenosis, Microphthalmia, Downslanted ... |
OMIM:115470 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Epicanthus, Downslanted palpebral fissures |
OMIM:617101 |
| Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Multiple joint contractures, Corneal opacity, Eczema, Re... |
ORPHA:464306 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia, Craniosynostosis |
OMIM:218670 |
| Deafness, X-Linked 7 |
|
Telecanthus, Posteriorly rotated ears, Hearing impairment, Unilateral microphthalmos, Atresia of ... |
OMIM:301018 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Telangiectasia of the skin, Osteomalacia, Recurrent fractures, Camptodactyly of finge... |
ORPHA:2176 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Aortic regurgitation, Corneal opacity, Congestive heart failure, Bronch... |
ORPHA:90348 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Abnormal rib morphology, Reduced bon... |
ORPHA:667 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Recurrent fractures, EEG with burst suppression, Sensorineural hearing impairment, Optic atrophy,... |
OMIM:606056 |
| Trisomy 8P |
|
Multiple joint contractures, Heart murmur, Upslanted palpebral fissure, Astigmatism, Heterochromi... |
ORPHA:264450 |
| Ritscher-Schinzel Syndrome 3 |
|
Highly arched eyebrow, Poorly ossified vertebrae, Epiphyseal stippling, Chorioretinal coloboma, M... |
OMIM:619135 |
| Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Increased circulating IgG level, Increased hematocrit, P... |
ORPHA:284227 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgi... |
OMIM:612561 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Joint stiffness, Abnormal rib morphology, Nonketotic hyperglycinemia, Ankyloblepharon, Popliteal ... |
ORPHA:1300 |
| Parenteral Nutrition-Associated Cholestasis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circul... |
ORPHA:567983 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel ... |
ORPHA:2345 |
| Moebius Syndrome |
|
Epicanthus, Abnormal pinna morphology, Congenital fibrosis of extraocular muscles, Facial diplegi... |
OMIM:157900 |
| Monosomy 13Q14 |
|
Epicanthus, Cataract, Thickened helices, Protruding ear, Low-set ears, Microphthalmia, Retinoblas... |
ORPHA:1587 |
| Legius Syndrome |
|
Inguinal freckling, Cataract, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Axillary f... |
ORPHA:137605 |
| Transketolase Deficiency |
|
Cataract, Seborrheic dermatitis, Elevated circulating ribitol concentration, Uveitis, Conjunctivi... |
ORPHA:488618 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals |
OMIM:210370 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Abnormal enchondral ossification, Short thorax, Narr... |
ORPHA:93299 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro... |
ORPHA:572333 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Hypertension, Hypoka... |
OMIM:617913 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Telecanthus, Camptodactyly of finger, Large earlobe, Hypoplasia of the ear cartilage, Microphthal... |
ORPHA:1236 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Epicanthus, Telecanthus, Camptodactyly of finger, Multiple pterygia, Abnormal eyelid morphology, ... |
ORPHA:2990 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Anteverted ears, Flexion contracture, Microcornea, Laterally curved eyebrow, Contra... |
OMIM:300166 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbiliru... |
OMIM:229600 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, Down-sloping shoulders, First degre... |
ORPHA:392 |
| Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Posteriorly rotated ears, Low-set ears, Camptodactyly, Microp... |
OMIM:611961 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Camptodactyly of finger, Band keratopat... |
OMIM:186580 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Metatropic Dysplasia |
|
Abnormal enchondral ossification, Clavicular pseudarthrosis, Cupped ribs, Flexion contracture, Sh... |
OMIM:156530 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Pectus excavatum, Abnormal rib morphology, Abnormal circulating creatine... |
ORPHA:2215 |
| Joubert Syndrome 37 |
|
Posteriorly rotated ears, Low-set ears, Microphthalmia, Joint hypermobility, Ptosis |
OMIM:619185 |
| Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Cataract, Hypopigmentation of hair, Aganglionic me... |
ORPHA:818 |
| Leptospirosis |
|
Papilledema, Pericarditis, Skin rash, First degree atrioventricular block, Retinal hemorrhage, Uv... |
ORPHA:509 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Recurrent fractures, Pectus exc... |
ORPHA:2785 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Posteriorly rotated ears, Abnormal retinal morphology, Camptodactyly of finger, Bilateral microph... |
OMIM:610758 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
| Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Posteriorly rotated ears, Upper eyelid coloboma, Low-set ears, ... |
OMIM:613456 |
| Charge Syndrome |
|
Mixed hearing impairment, Cataract, Anophthalmia, Facial palsy, Lop ear, Aplasia of the semicircu... |
OMIM:214800 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Low-set ears, Blepharophimo... |
ORPHA:404440 |
| Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, C... |
OMIM:166210 |
| Curry-Jones Syndrome |
|
Unicoronal synostosis, Blepharophimosis, Microphthalmia, Iris coloboma, Bicoronal synostosis |
OMIM:601707 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bup... |
OMIM:253280 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Hypokalemia,... |
ORPHA:411629 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Tremor, Synophrys, Lagophthalmos, Low-set ears, Pulmonic steno... |
ORPHA:3455 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Cafe-au-lait spot, Iris coloboma |
OMIM:618874 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Posteriorly rotated ears, Abnormal eyelash morphology, Capitate-hamate fusion, 4-5 ... |
OMIM:206920 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Choroidal neovascularization, Recurrent fractures, Heart block, Generalized osteos... |
ORPHA:416 |
| Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Epicanthus, Multiple pterygia, Flexion contracture, Thin ribs, Increased suscep... |
OMIM:312150 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
11 pairs of ribs, Hip contracture, Long clavicles, Sparse eyelashes, Shoulder flexion contracture... |
OMIM:210710 |
| Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Corneal opacity, Tracheomalacia, Multiple carpal ossification cen... |
OMIM:150250 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Limitation of joint mobility, Abnormal rib morphology, Pectus carinatu... |
ORPHA:3068 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Sensorineural hearing impairment, Peritonitis, Recurrent infections, Pyelonephritis, Bidirectiona... |
OMIM:619351 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Epicanthus, Posteriorly rotated ears, Uplifted earlobe, Synophrys, Upslanted palpebral fissure, M... |
OMIM:616734 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Hypoplastic scapulae, Aplastic clavicle, Increased susceptibility... |
OMIM:119600 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Abnormality of T cell physiology, Optic neuropathy, Splenomegaly, Iridocyclitis, Bo... |
OMIM:181000 |
| Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Recurrent upper respiratory tract infections, Recurrent pneumonia, Osteoporosis, Op... |
OMIM:253000 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Fraser Syndrome 1 |
|
Absent eyebrow, Anophthalmia, Corneal opacity, Abnormal pinna morphology, Absent eyelashes, Bilat... |
OMIM:219000 |
| Leprosy |
|
Absent eyebrow, Epistaxis, Abnormality of the spleen, Loss of eyelashes, Abnormality of the seven... |
ORPHA:548 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec... |
ORPHA:420741 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocorn... |
OMIM:206900 |
| Malignant Atrophic Papulosis |
|
Abnormal conjunctiva morphology |
OMIM:602248 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Lacrimation abnormality, Recurrent fractures, Camptoda... |
ORPHA:3206 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
| Oculoectodermal Syndrome |
|
Epicanthus, Transient ischemic attack, Chorioretinal atrophy, Hyperpigmented streaks, Microcornea... |
OMIM:600268 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Telecanthus, Upslanted palpebral fissure, Low-set ears, Microphthalmia, Coronal craniosynostosis |
ORPHA:228390 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Abnormal rib morphology, Increased suscepti... |
ORPHA:2769 |
| Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
| Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Highly arched eyebrow, Abnormal rib morphology, Radioulnar synostosi... |
ORPHA:2319 |
| Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca |
OMIM:619016 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Abnormal nasolacrimal system morphology, Aplastic clavicle, Crani... |
ORPHA:2658 |
| Mirizzi Syndrome |
|
Tachycardia, Hyperbilirubinemia |
ORPHA:521219 |
| Autosomal Dominant Centronuclear Myopathy |
|
Ptosis, Mildly elevated creatine kinase, Thin ribs |
ORPHA:169189 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Posteriorly rotated ears, Optic nerve hypoplasia, Bilateral microphthalmos, Eyelid c... |
OMIM:607597 |
| Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
| Aicardi Syndrome |
|
Retinal detachment, Cataract, Block vertebrae, Chorioretinal lacunae, Optic disc coloboma, Optic ... |
OMIM:304050 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Aortic regurgitation, Optic nerve hypoplasia, Facial palsy, Almond-shaped palp... |
ORPHA:508498 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Cataract, Calcification of the auricular cartilage, Synophrys, Bone cyst, Flexio... |
ORPHA:3042 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Upslanted palpebral fissure, Abnormal rib morphology, Aplasia/Hypoplasia of the eyebrow, Pectus c... |
ORPHA:3082 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Periapical tooth abscess |
ORPHA:3352 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Dense ca... |
OMIM:252920 |
| Kikuchi-Fujimoto Disease |
|
Palpebral edema, Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Splen... |
ORPHA:50918 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Flexion contracture, Knee flexion contracture, Intercrural pterygium... |
OMIM:265000 |
| Pmm2-Cdg |
|
Osteopenia, Joint laxity, Epicanthus, Multiple joint contractures, Cataract, Angina pectoris, Per... |
ORPHA:79318 |
| Senior-Boichis Syndrome |
|
Portal hypertension, Hepatosplenomegaly, Hypertension, Anemia, Increased total bilirubin |
ORPHA:84081 |
| Joubert Syndrome 22 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615665 |
| Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Macrotia, Decreased circulating IgA level |
DECIPHER:45 |
| 3P25.3 Microdeletion Syndrome |
|
Epicanthus, Sensorineural hearing impairment, Knee flexion contracture, Pulmonic stenosis, Blepha... |
ORPHA:435638 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Joi... |
ORPHA:1488 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse eyebrow, Sparse eyelashes, Hypoalbuminemia, Narrow chest |
OMIM:614748 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Epicanthus, Multiple pterygia, Flexion contracture, Thin ribs, Increased suscep... |
OMIM:253290 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Retinal infarction, Pulmonary arterial hypertension, Mydriasis |
OMIM:613834 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finge... |
ORPHA:306542 |
| Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Abnormal hand bone ossification, Short th... |
OMIM:200600 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Iris atrophy, Orthostatic hypotension, Ptosis |
OMIM:146500 |
| Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Epiphora |
OMIM:610283 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Posteriorly rotated ears, Craniosynostosis, Abnormal... |
OMIM:268300 |
| Legionnaires Disease |
|
Splenomegaly, Lymphopenia, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:549 |
| Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Splenomegaly, Xanthelasma |
ORPHA:30391 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse eyelashes, Limited elbow movement, Joint stiffness, Sparse eyebrow, Flexion contracture, O... |
OMIM:614008 |
| Marden-Walker Syndrome |
|
Epicanthus, Congenital contracture, Radioulnar synostosis, Low-set ears, Camptodactyly, Blepharop... |
OMIM:248700 |
| Axial Mesodermal Dysplasia Spectrum |
|
Limbal dermoid, Abnormality of the spleen, Abnormal rib morphology, Missing ribs |
ORPHA:1834 |
| Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
| Fryns Syndrome |
|
Aganglionic megacolon, Narrow palpebral fissure, Joint contracture of the hand, Polysplenia, Opac... |
OMIM:229850 |
| Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Dense ca... |
OMIM:252900 |
| Cone-Rod Dystrophy 8 |
|
Abnormality of retinal pigmentation, Epiphora |
OMIM:605549 |
| Amoebiasis Due To Free-Living Amoebae |
|
Stiff neck, Granuloma, Increased tear production, Arrhythmia, Corneal perforation, Conjunctival h... |
ORPHA:68 |
| Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... |
ORPHA:29073 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Hearing impairment, Heart murmur, Microtia, Recurrent otitis media, Blepharophimosis, Microphthal... |
ORPHA:2728 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Impaired T cell function |
OMIM:201100 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Limitation of joint mobility, Abnormal rib morphology, Recurre... |
ORPHA:1486 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Epicanthus, Posteriorly rotated ears, Abnormal pinna morphology, Sensorineural hearing impairment... |
OMIM:616975 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Epicanthus, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive hear... |
OMIM:105650 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Splenome... |
OMIM:614162 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Mixed hearing impairment, Cataract, Joint hypermobility, Synophrys, Sensorineural hearing impairm... |
OMIM:300990 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Bell-shaped thorax, Short... |
ORPHA:2021 |
| Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia, Low-set ears |
OMIM:613885 |
| Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Narrow chest,... |
OMIM:215140 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Contracture of the proximal interphalangeal joint o... |
OMIM:609813 |
| Antley-Bixler Syndrome |
|
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... |
ORPHA:83 |
| Neonatal Marfan Syndrome |
|
Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Flexion contracture, Heart murmur, Pectus ... |
ORPHA:284979 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
| Momo Syndrome |
|
Epicanthus, Underfolded helix, Bilateral microphthalmos, Eyelid coloboma, Chorioretinal coloboma,... |
ORPHA:2563 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Joint contracture, ... |
OMIM:616881 |
| Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Telecanthus, Joint stiffness, Microphthalmia, Ptosis |
ORPHA:1915 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Increased circulating IgE level, Enl... |
ORPHA:449432 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... |
ORPHA:77261 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Anemia |
ORPHA:935 |
| Glycogen Storage Disease Ic |
|
Hypoglycemia, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Recurr... |
OMIM:232240 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypopigmented skin patches, Cafe-au-lait spot, Downslanted palpebral fissures, Neonatal hypoglyce... |
ORPHA:457485 |
| Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Eczema, Hearing impairment, Camptodactyly of finger, Pustule, Hypopig... |
ORPHA:2907 |
| Aspartylglucosaminuria |
|
Joint laxity, Recurrent respiratory infections, Cataract, Acne, Vacuolated lymphocytes, Mitral re... |
OMIM:208400 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia |
OMIM:218700 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Absent lacrimal punctum, Epicanthus, Absent eyelashes, Lacrimal duct aplasia, Alacrima |
OMIM:620193 |
| Kagami-Ogata Syndrome |
|
Long clavicles, Splenomegaly, Flexion contracture, Thin ribs, Bell-shaped thorax, Pulmonic stenos... |
OMIM:608149 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Epicanthus, Keratoconus, Gastrointestinal hemorrhage, Congestive heart ... |
OMIM:225400 |
| Progeroid Short Stature With Pigmented Nevi |
|
Cataract, Diabetes mellitus, Allergic rhinitis, Impaired T cell function, Recurrent viral infecti... |
OMIM:176690 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos, Simple ear |
OMIM:619318 |
| Fanconi Anemia, Complementation Group L |
|
Upslanted palpebral fissure, Anotia, Microtia, Bone marrow hypocellularity, Low-set ears, Microph... |
OMIM:614083 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Microphthalmia, Decreased skull ossification, Thin ribs |
OMIM:300863 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Thin bony cortex, Generaliz... |
OMIM:613848 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Microtia, Camptodactyly of finger, Limitation of joint mobility |
ORPHA:2547 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Short thorax, Abnormal rib morphology, Osteolytic defects of the phala... |
ORPHA:2484 |
| Trisomy 10P |
|
Epicanthus, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppres... |
ORPHA:171929 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... |
OMIM:618131 |
| Epilepsy-Telangiectasia Syndrome |
|
Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation, Epiphora |
OMIM:616353 |
| Ohdo Syndrome, X-Linked |
|
Epicanthus, Posteriorly rotated ears, Hearing impairment, Sparse eyebrow, Microtia, Low-set ears,... |
OMIM:300895 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Epicanthus, Abnormal rib morphology, Pulmonary arterial hypertension, Abnormal sternum morphology... |
ORPHA:2519 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Thrombocytopenia, Giant platelets, Rib fusion, Posterior rib gap,... |
OMIM:611209 |
| Visual Impairment And Progressive Phthisis Bulbi |
|
Phthisis bulbi, Flat cornea, Ptosis |
OMIM:618283 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Recurrent fractures, Pectus excavatum, Thin ribs, Lambdoidal craniosynostosis, Corona... |
OMIM:616294 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Microtia, third degree, Microcornea, Anotia, Abnormal optic nerve morphology, Micro... |
ORPHA:3412 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Camptodactyly of finger, Asplenia, Splenomegaly, Elevated amniotic fluid alpha-... |
OMIM:249000 |
| Idiopathic Bronchiectasis |
|
Myocardial infarction, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infecti... |
ORPHA:60033 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hypopigmentation of the skin, Hypopigmentation of hair, Diabetes mellitus, Splenome... |
OMIM:219800 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Sensorineural ... |
ORPHA:728 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Irregular ossification... |
OMIM:260400 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Microtia, second degree, Cataract, Corneal opacity, Optic atro... |
ORPHA:709 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Joint stiffness, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Dense ca... |
OMIM:252930 |
| Chromosome 13Q14 Deletion Syndrome |
|
Epicanthus, Anteverted ears, Chorioretinal coloboma, Low-set ears, Microphthalmia, Iris coloboma,... |
OMIM:613884 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Telecanthus, Joint hypermobility, Craniosynostosis, Lateral clavicle ho... |
OMIM:182212 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Flexion contracture, Optic nerve hypoplasia, EEG abnormality |
OMIM:614833 |
| Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Blepharophimosis, Eyelid coloboma, Abnormal conjunctiva morphology, Limb... |
ORPHA:3339 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hypertriglyceridemia, Tricuspid regurgitation, Elevated hemoglobin A1c, Joint stiffne... |
OMIM:619127 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormality of skin pigmentation, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2180 |
| Proteus Syndrome |
|
Central heterochromia, Pulmonary embolism, Abnormality of skin pigmentation, Chorioretinal colobo... |
ORPHA:744 |
| Monosomy 18Q |
|
Epicanthus, Left-to-right shunt, Abnormal retinal morphology, Congestive heart failure, Sensorine... |
ORPHA:1600 |
| Johanson-Blizzard Syndrome |
|
Joint laxity, Absent lacrimal punctum, Diabetes mellitus, Increased VLDL cholesterol concentratio... |
OMIM:243800 |
| Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
| Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Hearing impa... |
OMIM:619869 |
| Myhre Syndrome |
|
Vertebral fusion, Cataract, Joint stiffness, Limitation of joint mobility, Narrow palpebral fissu... |
OMIM:139210 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Steinfeld Syndrome |
|
Abnormal pinna morphology, Retinal coloboma, Microphthalmia, Iris coloboma, Hearing impairment |
OMIM:184705 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Abnormally large globe, Sclerosis of skull base, Broad ribs, Downslanted palpebral fi... |
OMIM:269300 |
| Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Optic disc coloboma, Op... |
ORPHA:50 |
| Myhre Syndrome |
|
Craniofacial hyperostosis, Cataract, Joint stiffness, Abnormal rib morphology, Hypertension, Blep... |
ORPHA:2588 |
| Scalp-Ear-Nipple Syndrome |
|
Telecanthus, Cataract, Palpebral edema, Recurrent urinary tract infections, Underdeveloped antitr... |
ORPHA:2036 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sparse eyebrow, Upslanted palpebral fissure, Microtia, Low-set ears, Microphthalmia, Downslanted ... |
OMIM:612530 |
| Lowe Oculocerebrorenal Syndrome |
|
Hypercholesterolemia, Osteomalacia, Camptodactyly of finger, Elevated circulating creatine kinase... |
OMIM:309000 |
| Becker Nevus Syndrome |
|
Hypermelanotic macule, Pectus excavatum, Rib fusion, Pectus carinatum, Supernumerary ribs |
ORPHA:64755 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand, Aplastic ... |
OMIM:265800 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Epicanthus, Vertebral fusion, Joint hypermobility, Highl... |
OMIM:213980 |
| Yunis-Varon Syndrome |
|
Cataract, Sparse eyelashes, Absent sternal ossification, Sclerocornea, Abnormal pinna morphology,... |
ORPHA:3472 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Macrotia, Anophthalmia |
OMIM:600776 |
| Occipital Horn Syndrome |
|
Joint laxity, Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreas... |
OMIM:304150 |
| Isotretinoin-Like Syndrome |
|
Upslanted palpebral fissure, Lymphopenia |
ORPHA:2306 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Joint laxity, Aortic regurgitation, Epicanthus, Cataract, Sutural cataract, Highly arched eyebrow... |
OMIM:612474 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Thin ribs, Long eyelash... |
OMIM:617952 |
| Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
| Oculoauriculofrontonasal Syndrome |
|
Limbal dermoid, Upper eyelid coloboma |
ORPHA:398156 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Upslanted palpebral fissure, Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Premature graying of hair, Conductive hearing impairment, Hypoplastic superior heli... |
OMIM:113620 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia, Cataract, Iris coloboma |
ORPHA:2250 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Abnormal pinna morphology, Absent tragus, Synophrys, Lacrimal duct atresia, Atresia of ... |
OMIM:603457 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, Dilated cardiomyopathy,... |
ORPHA:79404 |
| Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia |
ORPHA:228119 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Thin ribs, Dec... |
OMIM:259420 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Synophrys |
ORPHA:261272 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Decreased heart rate variability, Highly arched eyebrow, Thro... |
OMIM:619005 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Uplifted earlobe, Asplenia, Flexion contracture, Iris coloboma, Decreased circulating antibody le... |
ORPHA:261537 |
| Lead Poisoning |
|
Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Hypertension, ... |
ORPHA:330015 |
| Knobloch Syndrome |
|
Retinal detachment, Epicanthus, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Mac... |
ORPHA:1571 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Type II diabetes mellitus |
ORPHA:2234 |
| Frontometaphyseal Dysplasia 1 |
|
Scapular winging, Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flex... |
OMIM:305620 |
| Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Cupped ribs, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs |
OMIM:173800 |
| Mowat-Wilson Syndrome |
|
Uplifted earlobe, Asplenia, Flexion contracture, Conductive hearing impairment, Iris coloboma, De... |
ORPHA:2152 |
| Complement Component 5 Deficiency |
|
Reduced hemolytic complement activity, Recurrent Neisserial infections, Generalized seborrheic de... |
OMIM:609536 |
| Cantú Syndrome |
|
Epicanthus, Curly eyelashes, Osteoporosis, Long eyelashes, Narrow chest, Broad ribs, Hypertrophic... |
ORPHA:1517 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Thin ribs, Abnormal bone ossification, Hyperostosis, Narrow chest, Sh... |
ORPHA:73230 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Microphthalmia, Abnormal spleen morphology, Low-set ears |
ORPHA:2470 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Microphthalmia, Cataract, Low-set ears |
OMIM:273395 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Epicanthus, Posteriorly rotated ears, Pulmonic stenosis, Camptodactyly, Microphthalmia, Cafe-au-l... |
OMIM:619148 |
| Renpenning Syndrome 1 |
|
Epicanthus, Cataract, Telecanthus, Hearing impairment, Cupped ear, Protruding ear, Upslanted palp... |
OMIM:309500 |
| Limb Body Wall Complex |
|
Corneal opacity, Abnormal thorax morphology, Lens subluxation, Thoracoabdominal wall defect, Iris... |
ORPHA:2369 |
| Seckel Syndrome 2 |
|
Few cafe-au-lait spots, Microphthalmia, Heart murmur |
OMIM:606744 |
| Stickler Syndrome |
|
Retinal detachment, Epicanthus, Telecanthus, Cataract, Recurrent respiratory infections, Ectopia ... |
ORPHA:828 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Abnormal rib morphology, Tarsal synostosis, Synostosis of carpal bones |
ORPHA:1836 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Short ribs, Ant... |
OMIM:250420 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Pectus excavatum, Synophrys, Abnormality of the palpebral fissures, Thin ribs, Abnorm... |
ORPHA:2463 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Abnormally large globe, Short ribs, Ho... |
OMIM:200610 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Epicanthus, Hypsarrhythmia, Recurrent infections, Hypertension, Rod-cone dystrophy, Neonatal hype... |
OMIM:300896 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Epicanthus, Pectus excavatum, Flexion contracture, Narrow palpebral fissure, Promin... |
ORPHA:254528 |
| 3M Syndrome |
|
Scapular winging, Thick eyebrow, Short thorax, Thin ribs, Enlarged thorax, Joint hyperflexibility... |
ORPHA:2616 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormalit... |
ORPHA:91387 |
| Trisomy 1Q |
|
Downslanted palpebral fissures, Short thorax, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:261344 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Epicanthus, Decreased heart rate variability, Neonatal hypogl... |
OMIM:619004 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Decreased calvarial ossific... |
OMIM:616229 |
| Cerebrofaciothoracic Dysplasia |
|
Epicanthus, Synophrys, Rib fusion, Narrow chest, Bifid ribs, Sprengel anomaly, Downslanted palpeb... |
ORPHA:1394 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo... |
ORPHA:411634 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Abnormal rib morphology, Osteo... |
ORPHA:1452 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Camptodactyly of finger, Short thorax, Rib fusion, Abnormal rib m... |
ORPHA:2311 |
| Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs |
OMIM:615220 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia, Decreased lacrimation |
ORPHA:293987 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology |
ORPHA:2578 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Rib fusion |
OMIM:277300 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Retinal dystrophy, Posteriorly rotated ears, Sclerocornea, Uplifted earlobe, Orbita... |
OMIM:607932 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cataract, Calcaneal epiphyseal stippling, Abnormal ossification involving the femoral head and ne... |
ORPHA:79345 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs |
OMIM:617895 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Epicanthus, Torticollis, Craniosynostosis, Hearing impairment, Cupped ear, Antecubital pterygium,... |
OMIM:609945 |
| Cushing Disease |
|
Adrenal hyperplasia, Paradoxical increased cortisol secretion on dexamethasone suppression test, ... |
ORPHA:96253 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Telecanthus, Epicanthus, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Generalized morning stiffness, Iridocycliti... |
ORPHA:85436 |
| Holoprosencephaly 7 |
|
Synophrys, Bilateral microphthalmos, Upslanted palpebral fissure, Shallow orbits, Microphthalmia,... |
OMIM:610828 |
| Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux |
|
Syncope, Alacrima |
OMIM:608088 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Flexion contracture, Thin ribs, Prominent sternum, Thoracic kyphosis, Thick... |
OMIM:300232 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... |
OMIM:620369 |
| Syndromic Diarrhea |
|
Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus... |
ORPHA:84064 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Hypoplasia of the lacrimal punct... |
OMIM:149730 |
| Poland Syndrome |
|
Diabetes mellitus, Aplasia/Hypoplasia of the sternum, Missing ribs, Retinal hamartoma, Abnormal r... |
ORPHA:2911 |
| Joubert Syndrome 2 |
|
Retinal dystrophy, Optic disc coloboma, Low-set ears, Chorioretinal coloboma, Microphthalmia |
OMIM:608091 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Long clavicles, Increased density of long bones, Splenopancreatic fusion, Opisthotonus, Hypoplasi... |
OMIM:269150 |
| Heart And Brain Malformation Syndrome |
|
Attached earlobe, Posteriorly rotated ears, Camptodactyly of finger, Low-set ears, Microphthalmia |
OMIM:616920 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Epicanthus, Highly arched eyebrow, Synophrys, Cupped ear, Overfolded helix, Decreased circulating... |
OMIM:617062 |
| Thoracolaryngopelvic Dysplasia |
|
Bell-shaped thorax, Short ribs, Horizontal ribs, Irregular chondrocostal junctions |
OMIM:187760 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
OMIM:118100 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Recurrent fractures, Undulate ribs, Thin ribs, Subperiosteal bone formation, Short ri... |
OMIM:618188 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... |
ORPHA:79280 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly |
OMIM:184400 |
| Prune Belly Syndrome |
|
Pectus excavatum, Abnormal rib morphology |
ORPHA:2970 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Torticollis, Hypoplasia of the thymus, Narrow chest, Broad ribs, ... |
OMIM:617022 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
| Meier-Gorlin Syndrome 1 |
|
Joint laxity, Absent sternal ossification, Lateral clavicle hook, Flat glenoid fossa, Flexion con... |
OMIM:224690 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Monosomy 9P |
|
Epicanthus, Highly arched eyebrow, Synophrys, Limitation of joint mobility, Abnormal rib morpholo... |
ORPHA:261112 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Low-set ears, Pulmonic stenosis, B... |
OMIM:601186 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Arthrogryposis multiplex congenita, Decreased calvarial ossification, Craniosynostosis, Thin ribs |
OMIM:618265 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Decreased cranial base ossification, Short ribs, Narrow chest, Thoracolumbar kyphosis,... |
OMIM:151210 |
| Hydrolethalus |
|
Low-set, posteriorly rotated ears, Microphthalmia, Anophthalmia, Low-set ears |
ORPHA:2189 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology |
OMIM:601076 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia, Alacrima |
OMIM:617671 |
| Teebi-Shaltout Syndrome |
|
Telecanthus, Highly arched eyebrow, Aortic valve stenosis, Low-set ears, Camptodactyly, Microphth... |
OMIM:272950 |
| Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Elevated circulating creatinine concentration, Crescentic glomerulonephritis,... |
ORPHA:93126 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Bilateral ptosis, Rib fusion,... |
ORPHA:544488 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Cole-Carpenter Syndrome |
|
Downslanted palpebral fissures, Joint hyperflexibility, Abnormal rib morphology, Recurrent fractures |
ORPHA:2050 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Joint laxity, Ectopia lentis, Cupped ribs, Delayed proximal femoral epiphyseal ... |
OMIM:271640 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Humeroradial synostosis, Low-set ears, Microphthalmia, Short palpebral fissure |
OMIM:251230 |
| Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Joint stiffness, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, ... |
OMIM:230500 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cupped ribs, Delayed ossification of carpal bones, Distal ulnar epiphyseal stippling |
OMIM:609616 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Hypoplastic scapulae, Tarsal synostosis, Increased circulat... |
ORPHA:95699 |
| Wiedemann-Rautenstrauch Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Entropion, Sparse eyelashes, Cataract, Absent eyelashes, Sp... |
OMIM:264090 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
| Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr... |
ORPHA:171430 |
| Zygomycosis |
|
Brain abscess, Splenic abscess, Neutropenia, Chemosis, Ptosis |
ORPHA:73263 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell... |
OMIM:613686 |
| Focal Dermal Hypoplasia |
|
Joint laxity, Linear hyperpigmentation, Anophthalmia, Mixed hearing impairment, Ectopia lentis, O... |
OMIM:305600 |
| Fraser Syndrome 2 |
|
Hypoplasia of the thymus, Atresia of the external auditory canal, Low-set ears, Microphthalmia, C... |
OMIM:617666 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
| Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Abnormal thorax morphology, Alacrima, Sclerosis of skull base, Radi... |
ORPHA:798 |
| Kilquist Syndrome |
|
Alacrima, Pectus carinatum |
OMIM:619080 |
| Kbg Syndrome |
|
Vertebral fusion, Telecanthus, Synophrys, Rib fusion, Cervical ribs, Thoracic kyphosis, Long palp... |
OMIM:148050 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Epicanthus, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Sclerosteosis 1 |
|
Sclerotic scapulae, Broad clavicles, Facial palsy secondary to cranial hyperostosis, Broad ribs, ... |
OMIM:269500 |
| Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Joint stiffness, Splenomegaly, Synophrys, Achilles tendon con... |
OMIM:252940 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal rib morphology |
ORPHA:93941 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplastic scapulae, Thin ribs, Pectus carinatum, Sprengel anomaly... |
ORPHA:958 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Multiple joint contractures, Optic nerve hy... |
ORPHA:468631 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Atresia of the external auditory canal, Iris coloboma, Hearing impairment |
ORPHA:3186 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Low-set ears |
ORPHA:163966 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Short thorax, ... |
ORPHA:3003 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Pterygi... |
OMIM:211350 |
| Neu-Laxova Syndrome 1 |
|
Ablepharon, Cataract, Absent eyelashes, Joint contracture of the hand, Low-set ears, Camptodactyl... |
OMIM:256520 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Bradycardia, Thrombocytopenia, Thin ribs |
OMIM:617397 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, ... |
OMIM:610915 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture, Narrow chest, Interphalangeal joint contracture of finger, Abnormality of th... |
ORPHA:96334 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Elevated circulating creatine kinase concentration, Opacification of the cornea... |
OMIM:615287 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Abnormal rib morphology |
ORPHA:1120 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Unicoronal synostosis, Sparse eyebrow, Bell-shaped thorax, Short ribs, Narrow chest, Microphthalm... |
OMIM:616300 |
| Townes-Brocks Syndrome |
|
Cataract, Blepharophimosis, External ear malformation, Abnormal tragus morphology, Microtia, Chor... |
ORPHA:857 |
| Three M Syndrome 2 |
|
Thin ribs, Scapular winging, Short thorax, Pectus carinatum |
OMIM:612921 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness |
ORPHA:2167 |
| Pseudotrisomy 13 Syndrome |
|
Upslanted palpebral fissure, Microphthalmia, Posteriorly rotated ears, Low-set ears |
OMIM:264480 |
| Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology |
ORPHA:1318 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs |
ORPHA:456328 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia, Cryptophthalmos |
ORPHA:2717 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy |
OMIM:619053 |
| Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Epicanthus, Anomalous rib insertion to vertebrae, Ca... |
OMIM:117650 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cupped ribs, Joint stiffness |
OMIM:608940 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia, Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
| Osteopathia Striata With Cranial Sclerosis |
|
Epicanthus, Tracheomalacia, Pectus excavatum, Craniofacial osteosclerosis, Straight clavicles, Sc... |
OMIM:300373 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Vertebral fusion, Epicanthus, Bundle branch block, Hypoglycemia, Camptodac... |
ORPHA:373 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Rib fusion, Craniosynostosis, Dystonia |
ORPHA:261197 |
| Velocardiofacial Syndrome |
|
Blepharophimosis, Narrow palpebral fissure, Posterior embryotoxon, Impaired T cell function |
OMIM:192430 |
| Microphthalmia With Limb Anomalies |
|
Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Tarsal synostosis, Optic atrophy,... |
ORPHA:1106 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Xylt1-Cdg |
|
Joint laxity, Broad ribs, Synophrys, Short clavicles |
ORPHA:370930 |
| Meckel Syndrome 14 |
|
Tricuspid regurgitation, Decreased calvarial ossification, Mitral regurgitation, Low-set ears, Mi... |
OMIM:619879 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryptophthalmos |
OMIM:248450 |
| 1P36 Deletion Syndrome |
|
11 pairs of ribs, Abnormal eyebrow morphology, Epicanthus, Cataract, Camptodactyly of finger, Joi... |
ORPHA:1606 |
| Short-Rib Thoracic Dysplasia 12 |
|
Epicanthus, Hypoplastic scapulae, Splenomegaly, Short thorax, Thoracic dysplasia, Short ribs, Nar... |
OMIM:269860 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia, Esophagitis |
ORPHA:2538 |
| Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Spatulate ribs, Broad clavicles, Broad ribs, Aortic valve stenosis |
OMIM:619698 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Eczema, Elbow contracture, Knee flexion contracture, Decreased circulating tot... |
OMIM:618162 |
| Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Telecanthus, Entropion,... |
ORPHA:1662 |
| Yunis-Varon Syndrome |
|
Sclerocornea, Protruding ear, Aspiration pneumonia, Small earlobe, Decreased skull ossification, ... |
OMIM:216340 |
| Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Generalized joint laxity, Increased circulating IgG level... |
OMIM:619472 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Paradoxical increased cortisol secretion on dexam... |
ORPHA:99889 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Delayed ossification of carpal bones, Thin ribs |
OMIM:618395 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Joint hypermobility, Thin ribs |
OMIM:300219 |
| Pontine Tegmental Cap Dysplasia |
|
Head titubation, Rib fusion, Ptosis |
OMIM:614688 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
| Dural Sinus Malformation |
|
Chemosis |
ORPHA:97339 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Joint laxity, Thoracic scoliosis, Absent sternal ossification, Hypoplastic scap... |
OMIM:114290 |
| Autosomal Recessive Robinow Syndrome |
|
Epicanthus, Camptodactyly of finger, Pectus excavatum, Rib fusion, Pectus carinatum, Upslanted pa... |
ORPHA:1507 |
| Fontaine Progeroid Syndrome |
|
Aplastic/hypoplastic lacrimal glands, Posteriorly rotated ears, Tricuspid regurgitation, Craniosy... |
OMIM:612289 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Lateral clavicle hook, Decreased calvarial ossification, Long thorax, Narrow chest, Short ribs, M... |
OMIM:617925 |
| Dextrocardia |
|
Abnormality of the spleen, Abnormal EKG, Abnormal rib morphology, T-wave inversion |
ORPHA:1666 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Lacrimal duct stenosis, Broad clavicles, H... |
OMIM:151050 |
| Cystic Fibrosis |
|
Osteopenia, Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurr... |
ORPHA:586 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Missing ribs, Pectus excavatum, Rib fusion, Proximal/middle symph... |
OMIM:268310 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
| Unilateral Polymicrogyria |
|
Abnormal posturing, Epistaxis |
ORPHA:268943 |
| Eiken Syndrome |
|
Delayed ossification of carpal bones, Broad ribs, Delayed epiphyseal ossification, Delayed tarsal... |
OMIM:600002 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Conjunctival whitish salt-like deposits |
OMIM:211900 |
| Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
| Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Telecanthus, Thoracic hypoplasia, Elbow contracture, Camptodactyly of finger, Th... |
OMIM:208150 |
| Kagami-Ogata Syndrome |
|
Limitation of joint mobility, Bell-shaped thorax, Coat hanger sign of ribs, Blepharophimosis, Tho... |
ORPHA:254519 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Thin ribs, Decreased calvarial ossification, Short sternum, Short ribs, Arthrogryposi... |
OMIM:620076 |
| Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Pectus carinatum, Short ribs, Narrow chest, Horizontal ribs |
OMIM:225500 |
| Cirrhotic Cardiomyopathy |
|
Conjunctival icterus |
ORPHA:57777 |
| Acrorenal-Mandibular Syndrome |
|
Epicanthus, Hypoplastic scapulae, Missing ribs, Elbow flexion contracture, Thin ribs, Narrow ches... |
OMIM:200980 |
| Vacterl/Vater Association |
|
Abnormal rib morphology |
ORPHA:887 |
| Baller-Gerold Syndrome |
|
Epicanthus, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Rib fusion, Limi... |
OMIM:218600 |
| Zttk Syndrome |
|
Aortic regurgitation, Epicanthus, Joint hypermobility, Craniosynostosis, Sparse eyebrow, Flexion ... |
OMIM:617140 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Short ribs,... |
OMIM:263520 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Microtia, Posteriorly rotated ears, Atresia of the external auditory canal |
OMIM:146510 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Noncompaction cardiomyopathy, Epicanthus, Cataract, Camptodactyly of finger, Sy... |
OMIM:607872 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal scapula morphology, Myocarditis, Abnormal rib morphology, Atrioventricular block, Narrow... |
ORPHA:93317 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
| Holoprosencephaly 2 |
|
Microphthalmia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Hyposegmentation of neutrophil nuclei, Knee flexion contracture, Joint hyperflex... |
OMIM:618019 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs |
OMIM:271520 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Epicanthus, Telecanthus, Tarsal synostosis, Rib fusion, Upslanted palpebral fissure... |
OMIM:157800 |
| Acrocapitofemoral Dysplasia |
|
Pectus excavatum, Cupped ribs, Pectus carinatum, Delayed ossification of carpal bones, Short ribs... |
OMIM:607778 |
| Femoral-Facial Syndrome |
|
Limited elbow movement, Missing ribs, Maternal diabetes, Humeroradial synostosis, Rib fusion, Lim... |
OMIM:134780 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphyseal ossifica... |
OMIM:250220 |
| Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Bilateral microphthalmos, Lower eyelid coloboma, ... |
OMIM:154500 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Short ribs, Horizontal ribs, Thoracic hypoplasia |
OMIM:613091 |
| 8Q24.3 Microdeletion Syndrome |
|
Joint laxity, Gastrointestinal hemorrhage, Epicanthus, Posteriorly rotated ears, Optic nerve hypo... |
ORPHA:508488 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Abnormal rib morphology, Joint hype... |
ORPHA:2554 |
| Craniofacial Microsomia 1 |
|
Anophthalmia, Block vertebrae, Blepharophimosis, Underdeveloped tragus, Conductive hearing impair... |
OMIM:164210 |
| Isolated Arrhinia |
|
Microphthalmia, Eyelid coloboma, Microtia |
ORPHA:1134 |
| Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, External ear malformation, Lacrimal duct aplasia... |
ORPHA:2052 |
| Cog1-Cdg |
|
Osteopenia, Rib fusion, Posterior rib gap, Hepatosplenomegaly, Pulmonary arterial hypertension, D... |
ORPHA:263508 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Epicanthus, Splenomegaly, Short ribs, Narrow chest, Short clavicles, Downslanted palpebral fissur... |
OMIM:617088 |
| Pagod Syndrome |
|
Abnormal clavicle morphology, Sudden cardiac death, Abnormality of the spleen, Abnormal rib morph... |
ORPHA:991 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Prominent antihelix, Microphthalmia, Macrotia, Underdevelop... |
OMIM:610829 |
| Radio-Renal Syndrome |
|
Abnormal rib morphology |
ORPHA:3015 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Recurrent fractures, Pectus excavatum, Multiple prenatal frac... |
OMIM:610682 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Microphthalmia, Abnormal pinna morphology, Low-set ears |
OMIM:236680 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia |
ORPHA:2166 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Epicanthus, Transient ischemic attack, Sagittal craniosynostosis, Sparse eyebrow, Rib fusion, Hyp... |
ORPHA:500150 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
| Pallister-Hall Syndrome |
|
Low-set, posteriorly rotated ears, Auricular tag, Microtia, Distal arthrogryposis, Atresia of the... |
ORPHA:672 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Barrel-shaped chest, Epicanthus, Broad clavicles, Congenital pseudoarthrosis of the clavicle, Hum... |
OMIM:276820 |
| Ulbright-Hodes Syndrome |
|
Maternal diabetes, Humeroradial synostosis, Abnormal rib morphology, Thin ribs, Short sternum, Sh... |
ORPHA:3404 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Rib fusion, Pulmonic stenosis, Missing ribs |
ORPHA:97360 |
| Adams-Oliver Syndrome 1 |
|
Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Microphthalmia, Aortic valve st... |
OMIM:100300 |
| Vater/Vacterl Association |
|
Radioulnar synostosis, Abnormal sternum morphology, Abnormal rib morphology |
OMIM:192350 |
| Holoprosencephaly 1 |
|
Microphthalmia, Hypoglycemia |
OMIM:236100 |
| Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
